1
Q
Abusive Head Trauma. What is it?
A
<ul> <li>Head injury inflicted by shaking </li> <li>Children under 1 year of age at risk because their neck muscles cannot stabilize head </li> <li>Associated with subdural hemorrhage, occult evidence of blunt trauma </li> <li>Principal ophthalmic manifestation: retinal hemorrhages, which result from... </li> <li>Shearing at interface of retina and vitreous </li> </ul>
2
Q
Abusive Head Trauma. How does it appear?
A
<ul> <li>One or more <a>surface retinal hemorrhages</a>, looking like red blisters </li> <li>Usually present in both eyes </li> <li>Deeper retinal hemorrhages and retinal splitting may occur in severe cases </li> </ul>
3
Q
Abusive Head Trauma. What else looks like it?
A
<ul> <li>Blood dyscrasias, especially <a>thrombocytopenia</a>, but can be diagnosed with blood count</li> <li>Severe blow to eyes, but should see <a>subconjunctival hemorrhage</a> and <a>hyphema</a> </li> <li>Birth trauma, but hemorrhages disappear spontaneously within 1 month of age </li> <li>Resuscitative chest compression (sudden rise in intrathoracic pressure), but hemorrhages few and mild </li> </ul>
4
Q
Abusive Head Trauma. How do you manage it?
A
<ul> <li>Consult ophthalmologist if you suspect abusive head trauma, especially by shaking </li> </ul>
5
Q
Abusive Head Trauma. What will happen?
A
<ul> <li>Hemorrhages resolve within 4-6 weeks </li> <li>Visual recovery good unless retina has split </li> <li>Neurologic outcome depends on severity of brain injury </li> </ul>
6
Q
Bacterial Endocarditis. What is it?
A
<ul> <li>Bacterial infection of heart valve </li> <li>Systemic manifestations: fever, fatigue, positive blood cultures for bacteria</li> <li>Ophthalmic manifestations: retinal hemorrhages, cotton wool spots, Roth spots, retinal infarcts </li> </ul>
7
Q
Bacterial Endocarditis. How does it appear?
A
<ul> <li>No visual symptoms unless retinal occlusions are large or close to fovea </li><li><a>Flame-shaped retinal hemorrhages</a>, <a>cotton wool spots</a>, and <a>Roth spots</a>—white-centered flame hemorrhages that are combinations of hemorrhages and cotton wool spots </li> <li>Areas of gray turbidity indicating <a>retinal infarction</a></li> <li><a>Fluffy white balls</a> indicating retinal infection that has originated in retina and spread into vitreous; this manifestation is rare </li> </ul>
8
Q
Bacterial Endocarditis. What else looks like it?
A
<ul> <li>Systemic hypertension </li> <li>HIV/AIDS </li> <li>Connective tissue diseases </li> <li>Systemic infection </li> <li>Blood dyscrasia </li> <li>Behçet disease </li> <li>Hypercoagulable states </li> </ul>
9
Q
Bacterial Endocarditis. How do you manage it?
A
<ul> <li>If considering diagnosis of bacterial endocarditis, refer to ophthalmologist for detection of occlusive retinopathy, although may have causes other than endocarditis </li> </ul>
10
Q
Bacterial Endocarditis. What will happen?
A
<ul> <li>Retinal abnormalities disappear if endocarditis effectively treated </li> <li>Vision impaired only if large retinal areas infarcted or infected</li> </ul>
11
Q
Behçet Disease. What is it?
A
<ul> <li>Autoimmune disorder causing vasculitis principally in eyes, mucous membranes, skin, but also in many other organs</li> <li>Diagnosed most commonly in Middle East and Asia around old Silk Road trading route</li> <li>Main systemic manifestations: recurrent painful mouth and genital ulcers, arthritis, meningoencephalitis</li> <li>Main ophthalmic manifestations: anterior uveitis often with hypopyon, retinal vasculitis, vitreous cells, optic neuropathy, papilledema from dural venous sinus thrombosis </li> </ul>
12
Q
Behçet Disease. How does it appear?
A
<ul> <li>Vision loss, photophobia, floaters</li> <li><a>Ciliary flush</a>, hazy cornea, <a>hypopyon</a></li> <li>Vitreous cells</li> <li><a>White cuffing </a>around retinal vessels </li> <li><a>Afferent pupil defect</a></li> <li><a>Papilledema</a> (from dural venous sinus thrombosis)</li> <li>Altered mental status, focal neurologic findings</li></ul>
13
Q
Behçet Disease. What else looks like it?
A
<ul> <li><a>Anterior uveitis</a> associated with other systemic diseases</li> <li><a>Retinal vasculitis</a> associated with connective tissue diseases</li> <li><a>Sarcoidosis</a></li> <li>Other vasculitides, infections, cancer</li> </ul>
14
Q
Behçet Disease. How do you manage it?
A
<ul> <li>Refer urgently to ophthalmologist any patient with diagnosis of Behçet disease who has newly blurred vision </li> <li>Refer non-urgently any patient without visual symptoms in whom Behçet disease is suspected in order to help confirm diagnosis and detect manifestations of mild ophthalmic involvement</li> </ul>
15
Q
Behçet Disease. What will happen?
A
<ul> <li>Diagnosis depends on combination of characteristic clinical features, exclusion of other diseases, and pathergy test, but...</li> <li>Diagnosis always remains presumptive as clinical features, laboratory tests, pathology not specific</li> <li>Treatment involves immune suppressants, including corticosteroids, cyclosporine, mycophenolate, azathioprine, cyclophosphamide, tumor necrosis factor inhibitors</li> <li>Outcomes depend on severity of manifestations and promptness of diagnosis</li> </ul>
16
Q
Candidiasis. What is it?
A
<ul> <li>Systemic infection with Candida fungal organisms </li> <li>Settings are sepsis, chronic parenteral hyperalimentation, hemodialysis, major surgery, burns </li> <li>Retinal infection rare but vision-threatening </li> </ul>
17
Q
Candidiasis. How does it appear?
A
<ul> <li>Patient may report impaired vision if able to communicate </li> <li>Ophthalmoscopy discloses <a>yellow-white mass</a> based in retina but spreading into vitreous cavity </li> <li>Looks like "headlight in fog"</li> </ul>
18
Q
Candidiasis. What else looks like it?
A
<ul><li>Vitreous hemorrhage</li> <li>Posterior uveitis </li> <li>Proliferative diabetic retinopathy</li> <li> Bacterial retinitis or endophthalmitis </li><li>Other fungal retinitis </li> <li>Ocular trauma </li> </ul>
19
Q
Candidiasis. How do you manage it?
A
<ul><li>Consult ophthalmologist to rule out intraocular spread, especially if patient reports vision impairment or cannot communicate</li> </ul>
20
Q
Candidiasis. What will happen?
A
<ul><li>In patients with candida organisms recovered from blood cultures or urine, but no evidence of systemic infection, ophthalmologic examination rarely discloses intraocular infection </li> <li>If ophthalmoscopy discloses findings suggestive of intraocular candida infection, vitreous will be aspirated for smear and culture </li> <li>Intravitreal injection of anti-fungal agent often performed </li> <li>Vitrectomy may also be necessary to preserve vision </li> <li>Visual salvage depends on extent of infection at discovery </li> </ul>
21
Q
Congenital Rubella Syndrome. What is it?
A
<ul> <li>Infection of fetus exposed to maternal rubella during first trimester of pregnancy </li> <li>Retinopathy, microphthalmia (small eye), cataract, glaucoma, corneal opacification, or uveitis, present in over 70% of cases</li> </ul>
22
Q
Congenital Rubella Syndrome. How does it appear?
A
<ul> <li>Fine speckling of retina<strong> </strong>called "salt-and-pepper retinopathy" that does not impair vision</li> <li>Microphthalmia, cataract, glaucoma, corneal scar, and uveitis often impair vision</li> </ul>
23
Q
Congenital Rubella Syndrome. What else looks like it?
A
<ul> <li>Congenital syphilis </li> <li>Genetic disorders </li> <li><a>Deferoxamine toxicity</a></li> <li><a>Chloroquine or hydroxychloroquine toxicity</a></li> <li>Thioridazine toxicity</li></ul>
24
Q
Congenital Rubella Syndrome. How do you manage it?
A
<ul> <li>Refer baby with microphthalmia, cataract, glaucoma, corneal scar, uveitis, or retinopathy to ophthalmologist urgently </li> </ul>
25
Congenital Rubella Syndrome. What will happen?
- Cataract, glaucoma, corneal scar, uveitis may require treatment to preserve or restore vision
- Retinopathy rarely requires treatment and typically remains stationary
26
Cytomegalovirus Infection. What is it?
- Systemic infection with cytomegalovirus
- May cause necrotizing retinitis as virus invades vascular endothelium
- At risk are immune-compromised patients and infants of HIV/AIDS-infected mothers
- Systemic and intravitreal antiviral treatment effective if given early
27
Cytomegalovirus Infection. How does it appear?
- One or more cotton wool spots earliest sign
- As disease advances, cotton wool spots joined by retinal infiltrates, hemorrhages
- May start in retinal periphery and spread posteriorly
- Infection can destroy retina within days to weeks
28
Cytomegalovirus Infection. What else looks like it?
- Herpes simplex and herpes zoster retinitis
- Toxoplasma retinitis
- Candida retinitis
- Systemic hypertension
- Diabetes
- Connective tissue diseases
- Blood dyscrasias
29
Cytomegalovirus Infection. How do you manage it?
- Refer immune-compromised patients with visual symptoms, low CD4, high CMV viral loads, or cotton wool spots promptly to ophthalmologist
- Refer babies whose mothers have HIV/AIDS to ophthalmologist
30
Cytomegalovirus Infection. What will happen?
- Immune reconstitution with highly active anti-retroviral therapy will be aimed at keeping CD4 count above 100/mm3
- Direct treatment options include ganciclovir, valganciclovir, foscarnet, cidofovir, and fomivirsen given systemically or intravitreally
- If started early enough, these treatments arrest infection and preserve vision
31
Diabetes Mellitus. What is it?
- Systemic disorder marked by elevated blood sugar
- Type 1 (onset in youth) autoimmune insulin deficiency
- Type 2 (onset in adulthood) insulin resistance
- Major cause of visual impairment, because...
- Retinal blood vessels leak to cause macular edema, and...
- Retinal blood vessels occlude to cause retinal ischemia, neovascular and fibrovascular proliferation, vitreous hemorrhage, retinal detachment
- Vision-reducing diabetic macular edema present in 10% within 15 years of diagnosis
- Nonproliferative retinopathy present in 25% within 15 years of diagnosis
32
Diabetes Mellitus. How does it appear?
- Microaneurysms, dot-blot hemorrhages, hard exudates in earliest stage ("non-proliferative" or "background" retinopathy), reflecting leakage from incompetent pre-capillary arterioles
- New retinal blood vessels in more advanced stage ("neovascular proliferative retinopathy"), reflecting chronic retinal ischemia
- Pre-retinal fibrovascular stalk in most advanced stage ("fibrovascular proliferative retinopathy"), reflecting severe retinal ischemia
33
Diabetes Mellitus. What else looks like it?
- Other yellow-white things in retina
- Hemorrhages of systemic hypertension, blood dyscrasias, radiation, connective tissue disorders, conditions that cause microvascular incompetence
- Microaneurysms unique to diabetes mellitus, but difficult to see without special instruments
- Neovascularization distinguished from normal vascularization by their weblike density
- Fibrovascular proliferation after eye trauma, retinal detachment
34
Diabetes Mellitus. How do you manage it?
- Refer patient with new visual loss with urgency depending on acuteness of visual symptoms
- Refer patients without visual symptoms to ophthalmologist non-urgently at time of diagnosis
35
Diabetes Mellitus. What will happen?
- Critical preventive measures: tight control of blood sugar, blood pressure, lipids
- Grid laser photocoagulation treats macular edema
- Intravitreal injection of corticosteroids or anti-vascular endothelial growth factors (anti-VEGF) treats neovascular retinopathy
- Pan-retinal photocoagulation also treats neovascular retinopathy, often causing impressive regression of new vessels
- Vitrectomy treats advanced fibrovascular proliferative retinopathy
- Masked trials found that these treatments stabilize and sometimes reverse vision loss if applied early
36
Giant Cell Arteritis. What is it?
- Autoimmune inflammation of medium-sized arteries, especially branches of external carotid artery
- Affects those aged 60 years and older
- May be severe form of polymyalgia rheumatica
- Causes headache, joint and muscle aches, scalp tenderness, jaw claudication, fatigue, appetite loss
- Elevated erythrocyte sedimentation rate and C-reactive protein
- Chief concern is arteritic ischemic optic neuropathy causing irreversible blinding infarction of optic disc in one or both eyes
37
Giant Cell Arteritis. How does it appear?
- Sudden painless loss of vision in one eye
- Similar process may affect other eye within hours to days
- Visual loss often profound
- Afferent pupil defect, and...
- Swollen optic disc in affected eye(s) in 95% of cases
- In at least 80% of cases, patient reports one or more systemic features present for weeks to months
38
Giant Cell Arteritis. What else looks like it?
- Non-arteritic ischemic optic neuropathy, but visual loss usually less severe, and patients lack systemic symptoms of giant cell arteritis
- Optic neuritis, but usually in younger individuals
- Papilledema, but usually present in both eyes and vision less affected
39
Giant Cell Arteritis. How do you manage it?
- Refer emergently to ophthalmologist any elderly patient with sudden visual loss, even if there are no systemic features of giant cell arteritis
- Refer elderly patients for temporal artery biopsy if they have new head or neck manifestations that suggest giant cell arteritis and sedimentation rate and C-reactive protein are elevated
40
Giant Cell Arteritis. What will happen?
- Patients with clinical evidence of optic disc infarction and clinical or serologic evidence to suggest giant cell arteritis will be treated immediately with intensive intravenous corticosteroid therapy
- Intensive corticosteroid treatment may prevent further visual loss
- Patients who have normal vision but systemic symptoms of polymyalgia rheumatic or giant cell arteritis will undergo testing of sedimentation rate and C-reactive protein, which will be elevated in at least 80% of cases with giant cell arteritis
- To sustain diagnosis of giant cell arteritis, temporal artery biopsy must show thickening of media and endothelium, often with fragmentation of internal elastic lamina and sometimes with granulomas filled with Langerhans giant cells (granulomatous inflammation)
- Properly performed and interpreted, temporal artery biopsy of one side has sensitivity of at least 93% and specificity of nearly 100% for giant cell arteritis
- If biopsy of one temporal artery is negative, biospy of other temporal artery is indicated in cases of high clinical suspicion
- Biopsy of second temporal artery increases sensitivity by about 3%
- Negative biopsy excludes diagnosis of giant cell arteritis, and...
- Positive biopsy mandates continuous corticosteroid treatment for at least 1 year after diagnosis
41
Graves Disease. What is it?
- Autoimmune process that targets thyroid gland, orbital tissues
- Systemic manifestations include hyperthyroidism and hypothyroidism
- Serum markers include elevated thyroid-stimulating immunoglobulin
- Disease divided into active phase (inflammation) and inactive phase (scarring)
- Ophthalmic manifestations: lid retraction, lid lag, proptosis, conjunctival inflammation, tearing, ocular misalignment, optic neuropathy
42
Graves Disease. How does it appear?
- Discomfort around eyes rather than pain
- Symptoms appear gradually and depend on which signs are present
- Lid retraction: lower border of upper lid does not reach top of cornea, so that some sclera shows
- Lig lag: upper lids do not keep pace with eyes on downward gaze, so that sclera shows until upper lids catch up
- Proptosis (exophthalmos): forward displacement of eye because of retrobulbar soft tissue swelling
- Conjunctival inflammation: diffuse congestion with dilated blood vessels and conjunctival swelling
- Tearing: because conjunctiva inflamed
- Ocular misalignment: extraocular muscles become inflamed and stiff, preventing full eye movement
- Optic neuropathy: extraocular muscles enlarge enough to compress optic nerve in posterior orbit
- Swollen extraocular muscles apparent on orbital CT or MRI
43
Graves Disease. What else looks like it?
- Orbital cellulitis, but usually faster onset, unilateral, and no lid retraction
- Idiopathic orbital inflammation, but usually more pain, more unilateral, and no lid retraction or lag
- Orbital tumor, but usually unilateral, and no lid retraction or lag
- Carotid-cavernous arteriovenous fistula, but superior ophthalmic vein dilated on imaging
- Conjunctivitis causes no proptosis, lid lag, or lid retraction
- Contact dermatitis affects only lids and surrounding facial skin
- Stye causes focal swelling and tenderness mainly affecting one lid
- Dacryocystitis causes focal swelling and tenderness of nasal portion of lower lid, where lacrimal sac lies
- Anterior uveitis causes photophobia
- Scleritis usually causes focal conjunctival redness and more periocular pain
44
Graves Disease. How do you manage it?
- Refer non-urgently to ophthalmologist
- Refer more urgently if patient expresses marked pain or vision loss
45
Graves Disease. What will happen?
- Regulation of thyroid function does not alter course of ophthalmic findings
- Head-of-bed elevation, topical decongestants treat mild conjunctival inflammation
- Short-term corticosteroids treat marked ocular discomfort, conjunctival inflammation, ocular misalignment
- Lubricants and moisture chambers treat severe proptosis with corneal exposure
- Orbital wall surgical decompression treats corneal exposure, optic neuropathy
- Spectacle prisms and extraocular muscle surgery treat ocular misalignment once disease enters inactive phase
- Lid-lowering surgery treats lid retraction
- Outcomes depend on severity of disease and timing of interventions
46
HIV / AIDS. What is it?
- Infection with the human immunodeficiency virus (HIV) that may cause acquired immunodeficiency disease syndrome (AIDS)
- Systemic manifestations based on immune reaction to virus and infections arising from immune-compromised state
- Most common ophthalmic manifestations: cotton wool spots ("HIV retinopathy") and retinal necrosis from cytomegalovirus, herpes simplex virus, or herpes zoster virus ("herpesvirus retinopathy")
- Less common ophthalmic manifestations: retinal, uveal, optic nerve infections from syphilis, toxoplasmosis, cryptococcosis
47
HIV / AIDS. How does it appear?
- Vision loss if lesions are large, lie near fovea, or in optic nerve
- Cotton wool spots, reflecting immune reaction to virus
- Retinal necrosis sometimes starting in periphery, reflecting herpesvirus infection
- Vitreous clouding from spread of retinal or uveal inflammation
- Optic neuropathy, with or without optic disc edema, reflecting infection by herpesviruses, syphilis, toxoplasma, cryptococcus, other organisms
48
HIV / AIDS. What else looks like it?
- Cotton wool spots merely reflect retinal microvascular occlusive disease, caused by many other conditions
- In severe body trauma and pancreatitis, think of Purtscher retinopathy
- Retinal necrosis can be mimicked by uveitis, endophthalmitis
49
HIV / AIDS. How do you manage it?
- Refer to ophthalmologist any patient with HIV/AIDS who has visual symptoms or low CD4 count or high viral load
50
HIV / AIDS. What will happen?
- Cotton wool spots usually disappear spontaneously, leaving behind tiny areas of retinal infarction not noticeable to patient unless very large or close to fovea
- If disease controlled, no further ophthalmic problems occur
- In severe disease, herpesvirus retinopathy may destroy retina within weeks, so...
- Intravitreal and systemic antiviral treatment are critical to halt disease
- Other infections must be diagnosed and treated appropriately to preserve vision
51
Horner Syndrome. What is it?
- Unilateral ptosis, miosis, and sometimes facial anhydrosis
- Interruption of sympathetic nervous system pathway anywhere between hypothalamus and eye
- May be isolated manifestation
- Main causes of acute isolated Horner syndrome: spontaneous or traumatic dissection of cervical carotid artery, neck/upper chest trauma from insertion of venous catheter
52
Horner Syndrome. How does it appear?
- Droopy upper lid and small but reactive pupil on same side
- Difference in pupil size between the two eyes (anisocoria) rarely greater than 2mm
- Ptosis rarely greater than 2mm
- Neck pain sometimes
53
Horner Syndrome. What else looks like it?
- Ptosis from myasthenia gravis, trauma, or third nerve palsy
- Miosis from eye trauma or inflammation
54
Horner Syndrome. How do you manage it?
- Refer patient emergently to ophthalmologist or emergency room if you find upper lid ptosis and miosis, especially if acute and accompanied by new neck pain
- Refer patient non-emergently for chronic ptosis
55
Horner Syndrome. What will happen?
- Ophthalmologist will instill apraclonidine 0.5% or cocaine 10% into both eyes to confirm denervated iris of Horner syndrome
- Acute isolated Horner syndrome common after neck/upper chest surgery and after insertion of central venous catheter
- Otherwise acute isolated Horner syndrome suggests cervical carotid dissection and chance for stroke
- Evaluation of acute isolated Horner syndrome includes emergent vascular imaging (CTA or MRA)
- If dissection confirmed, aspirin or anticoagulant will be prescribed
- Chronic isolated Horner syndrome may be caused by neck or paraspinal tumors, old neck/chest trauma, middle ear infection
- Evaluation of chronic isolated Horner syndrome includes neck and upper chest imaging (CT or MRI)
56
Leukemia. What is it?
- Neoplastic proliferation of white blood cells
- Four main types: acute and chronic myelogenous, acute and chronic lymphogenous
- Systemic manifestations include fever, fatigue, bleeding, lymph node and spleen enlargement
- Diagnosis based on blood count, blood smear, and bone marrow pathology
- Most common ophthalmic manifestation: retinal hemorrhages
57
Leukemia. How does it appear?
- Retinal hemorrhages
- Occur when platelet count drops to 20,000 or below
- Retinal artery or vein occlusions occur if total leukocyte count is 100,000 or above
58
Leukemia. What else looks like it?
- Other blood dyscrasias
- Diabetes mellitus, but more hard exudates
- Systemic hypertension, connective tissue disorders, vasculitis
59
Leukemia. How do you manage it?
- Refer urgently any patient with new vision loss and known leukemia or other blood dyscrasia
60
Leukemia. What will happen?
- Retinal changes will resolve spontaneously if blood counts improve
- White cell counts above 100,000 can lead to slowed blood flow ("leukostasis") and occlusion of large retinal vessels with permanent vision loss
61
Lupus Erythematosus. What is it?
- Autoimmune disorder targeting blood cells and many organs
- Systemic manifestations: fatigue, fever, joint aches, confusion, butterfly rash on cheeks, chest pain, Raynaud phenomenon
- Ophthalmic manifestations: cotton wool spots, flame-shaped hemorrhages, and retinal infarctions, reflecting occlusions of small retinal arteries
62
Lupus Erythematosus. How does it appear?
- No vision loss unless retinal abnormalities are large or occur near fovea
- Cotton wool spots: white blotches on retinal surface that obscure underlying retina
- Flame-shaped hemorrhages: slender red smears on retinal surface
- Retinal arteriolar occlusions: areas of gray turbidity
63
Lupus Erythematosus. What else looks like it?
64
Lupus Erythematosus. How do you manage it?
- Refer patients with visual loss and lupus urgently to ophthalmologist
- Refer patients without visual symptoms who have established diagnosis of lupus erythematosus or other rheumatologic disorder non-urgently to ophthalmologist to assess activity of disease
65
Lupus Erythematosus. What will happen?
- Retinal abnormalities resolve spontaneously if disease activity controlled
- No vision loss unless large retinal areas have been infarcted
66
Marfan Syndrome. What is it?
- Autosomal dominant disorder marked by tallness and long limbs
- Caused by mutation in FBN1 gene responsible for elastic fiber strength
- Chief concern: heart valve degeneration, aortic aneurysm, aortic dissection
- Principal ophthalmic manifestation: dislocated crystalline lens ("ectopia lentis")
67
Marfan Syndrome. How does it appear?
- Dislocated crystalline lens in 80% of cases
- Usually dislocated superotemporally
- Dislocation visible only with slit lamp biomicroscopy through dilated pupil, which shows...
- Exposed lens zonules: elastic fibers extending radially toward the lens margin and suspending the lens from the ciliary muscle like a hammock
68
Marfan Syndrome. What else looks like it?
- Direct trauma to eye, which can cause lens dislocation
- Homocystinuria, but lens dislocation is inferonasal
69
Marfan Syndrome. How do you manage it?
- Refer patients with suspected Marfan syndrome for ophthalmological examination
70
Marfan Syndrome. What will happen?
- Marked lens dislocation may create blurred vision, so that...
- Lens extraction necessary if optical measures do not work
- Retinal detachment and glaucoma may occur independently of lens dislocation
71
Migraine. What is it?
- Episodic headache often preceded by neurologic manifestation called "aura"
- Most common aura: sparkling zigzag that migrates across visual hemifield and obscures it ("scintillating scotoma")
72
Migraine. How does it appear?
- Visual aura starts as tiny scotoma appearing to both eyes adjacent to fixation
- Scotoma enlarges across one hemifield with sparkling leading edge, blocking vision as it goes
- Visual episode lasts 20 to 30 minutes
- Headache, fatigue, nausea, mild confusion follow visual aura and last for hours to days
- Visual aura may occur without other manifestations ("acephalgic migraine"), especially after age 50
73
Migraine. What else looks like it?
- Posterior circulation (vertebrobasilar) transient ischemic attack (TIA), but episode lasts seconds to minutes and scotoma does not migrate
- Occipital lobe seizure, but duration of visual symptoms very variable and scotoma does not migrate
- Vitreoretinal tug, but visual symptom is non-migrating flash lasting less than second
- Retinal or optic nerve disorders, but visual symptom usually flickering lights
74
Migraine. How do you manage it?
- Consider alternative diagnoses if symptoms do not match migraine perfectly
- Refer to ophthalmologist, who may refer patient to neurologist or internist, depending on findings
- Advise patients with migraine and visual aura to avoid smoking and oral contraceptives, which increase risk of migrainous stroke
- Recognize difficulty of excluding TIA or seizure, which are potentially life-threatening
75
Migraine. What will happen?
- Migraine may be disruptive if attacks frequent and painful, requiring medication
76
Myotonic Dystrophy. What is it?
- Autosomal dominant muscular disorder
- Based on abnormal repetition of DNA trinucleotide segments
- Causes muscle weakness and wasting in arms, legs, neck, face
- Chief concern: life-threatening cardiac conduction defects
- Most common ophthalmic manifestations: cataract, pigmentary retinopathy, ptosis, eye movement deficits
77
Myotonic Dystrophy. How does it appear?
- Spoke-like cataract resembling Christmas tree branches present in nearly 100% of cases
- Pigmentary retinopathy with macular ring-like ("bull's-eye") depigmentation and a peripheral salt-and-pepper dusting common but mild, so that...
- Minimally reduces visual acuity and night vision
- Bilateral symmetrical ptosis and reduced eye movements usually subtle and minimally symptomatic
78
Myotonic Dystrophy. What else looks like it?
- Many systemic conditions cause cataract, but Christmas tree branching is distinctive
- Pigmentary retinopathy occurs in many systemic conditions
- Ptosis and reduced eye movements occur in many neurologic diseases
79
Myotonic Dystrophy. How do you manage it?
- Refer patients suspected of having myotonic dystrophy to ophthalmologists because cataract, ptosis, or retinopathy may impair vision
80
Myotonic Dystrophy. What will happen?
- Ophthalmic manifestations helpful in diagnosis and sometimes require intervention
81
Neurofibromatosis Type I . What is it?
- Autosomal dominant disorder marked by tumors, cognitive deficits, and scoliosis
- Mutation in chromosome 17 responsible for control of cell division
- 50% of cases familial, 50% sporadic
- Non-malignant growths on iris called Lisch nodules present in 100% of cases by age 20
- Optic nerve and chiasm gliomas ("juvenile pilocytic astrocytomas") present in 15% of cases
- Neurofibromas cause ptosis or proptosis
82
Neurofibromatosis Type I . How does it appear?
- Lisch nodules: tan mounds on iris surface
- Present in 50% of cases by age 6 and 100% by age 20
- Hard to recognize without slit lamp biomicroscopy
- Do not affect vision
- Optic nerve gliomas discovered incidentally on imaging or by causing impaired vision or proptosis
- Neurofibromas grow as lumps on lids or cause proptosis
- Sphenoid dysplasia may cause pulsating eye
- Trabecular meshwork dysplasia may cause glaucoma
83
Neurofibromatosis Type I . What else looks like it?
- Iris nevi mimic Lisch nodules, but are usually darker
- Optic nerve meningiomas or schwannomas mimic gliomas
- Many kinds of lid masses mimic neurofibromas
84
Neurofibromatosis Type I . How do you manage it?
- For suspected neurofibromatosis type 1, refer to ophthalmologist non-urgently for detection of Lisch nodules
- For impaired vision in patient with neurofibromatosis, refer to ophthalmologist non-urgently to rule out optic glioma
- For lid mass or proptosis in patient with neurofibromatosis, refer to ophthalmologist to rule out neurofibroma
85
Neurofibromatosis Type I . What will happen?
- Lisch nodules valuable in diagnosis because highly specific and present in high proportion of cases
- Optic gliomas elicit treatment with chemotherapy if vision severely impaired or worsening, but...
- Spontaneous improvement in vision may occur, and...
- Efficacy of chemotherapy not rigorously verified
- Reversal of vision loss with treatment rare
- Neurofibromas treated by surgical excision, but...
- Complete excision is difficult and dangerous
- Open-angle glaucoma must be excluded
86
Pseudoxanthoma Elasticum. What is it?
- Autosomal recessive disorder causing degeneration of elastic tissue, especially in skin, blood vessels, eyes
- Causes tears in Bruch’s membrane, which lies between retina and choroid
- New blood vessels sometimes develop under fovea, bleed, and blind
87
Pseudoxanthoma Elasticum. How does it appear?
- Jagged red-orange streaks ("angioid streaks") radiating from optic disc
- Bleeding from new blood vessels under fovea that looks like wet macular degeneration
88
Pseudoxanthoma Elasticum. What else looks like it?
- Angioid streaks also occur in Ehlers-Danlos syndrome, sickle cell anemia, and Paget disease
- High myopia
- Optic fundus in blonde subjects
89
Pseudoxanthoma Elasticum. How do you manage it?
- Refer all patients with pseudoxanthoma elasticum for periodic ophthalmologic examination to detect new blood vessels
- Warn patients to consult ophthalmologist immediately should they notice sudden blurring or warping of vision
- Advise wearing protective glasses and avoiding contact sports because trauma can worsen condition
90
Pseudoxanthoma Elasticum. What will happen?
- Treatments used in wet age-related macular degeneration often prevent severe vision loss
91
Rheumatoid Arthritis. What is it?
- Autoimmune disorder causing inflammation and scarring of joints
- Principal ophthalmic manifestation in adults: dry eye syndrome ("keratitis sicca"), as tear-producing glands become damaged
- Principal ophthalmic manifestation in children: anterior uveitis
92
Rheumatoid Arthritis. How does it appear?
- Photophobia
- "It feels like there is sand in my eyes" ("foreign body" sensation)
- Corneal surface dry and without usual shine
- Areas of absent epithelium stain green with instilled fluorescein dye
- Paper strip placed in anesthetized conjunctival cul-de-sac (Schirmer test) shows less than 10mm of wetting after 5 minutes
- In severe rheumatoid arthritis, junction of cornea and sclera ulcerates ("sclerokeratitis")
- Children often report no symptoms
- Slit lamp examination of children shows low-grade anterior chamber inflammation, iris margin adhering to anterior lens capsule (posterior synechia), cataract, elevated intraocular pressure
93
Rheumatoid Arthritis. What else looks like it?
- Corneal inflammation, trauma, dystrophy, radiation, and exposure may cause epithelial fluorescein staining (superficial punctate keratopathy), but Schirmer test normal
- Dry eye syndrome common feature of graft versus host disease, erythema multiforme, cicatricial pemphigoid, vitamin A deficiency
- Anterior uveitis and sclerokeratitis may occur in isolation or in other connective tissue diseases; see Connective Tissue Diseases
94
Rheumatoid Arthritis. How do you manage it?
- Refer patients suspected of rheumatoid arthritis or other connective tissue diseases to ophthalmologist because...
- Findings may help with systemic diagnosis and...
- Ophthalmic manifestations may require attention
95
Rheumatoid Arthritis. What will happen?
- Dry eye syndrome may lead to corneal scarring if not treated adequately
- Dry eye syndrome is treated with tear substitutes, topical corticosteroids and cyclosporine, punctal occlusion, moisture chambers, tarsorrhaphy
- Sclerokeratitis may lead to corneal perforation, endophthalmitis, loss of eye
- Anterior uveitis may lead to glaucoma and cataract
96
Sarcoidosis. What is it?
- Idiopathic granulomatous inflammation of many organs
- Most common ophthalmic manifestation: uveitis
97
Sarcoidosis. How does it appear?
- Photophobia, eye pain, although many patients have no ophthalmic symptoms because inflammation is indolent
- Cells floating in aqueous and hazy slit-lamp beam as it traverses anterior chamber (flare), reflecting disruption of blood-aqueous barrier
- Tiny opaque deposits on inner corneal surface ("keratic precipitates")
- Adherence of iris to anterior lens surface ("posterior synechiae")
- Vitreous cells
- White cuffing around retinal vessels
- Gray-white choroidal nodules
- Lacrimal gland enlargement
- Conjunctival granulomas
- Optic neuropathy
- Third, fourth, sixth, seventh cranial nerve palsies
98
Sarcoidosis. What else looks like it?
- Many other causes of granulomatous uveitis, including connective tissue diseases, systemic vasculitides, infections
99
Sarcoidosis. How do you manage it?
- Refer patient to ophthalmologist if diagnosis of sarcoidosis in question, as eye findings may be helpful in diagnosis yet not produce visual symptoms
- Refer patient non-urgently to ophthalmologist for visual symptoms
100
Sarcoidosis. What will happen?
- Eye, surrounding tissues, and visual pathway involved in over 25% of sarcoidosis cases
- Manifestations usually indolent but may cause severe and irreversible ophthalmic damage
- Treatment involves topical, periocular, systemic corticosteroids and steroid-sparing immunomodulatory agents
- Early diagnosis and treatment make a difference!
- Conjunctival biopsy low diagnostic yield if conjunctiva appears normal
101
Sickle Cell Disease. What is it?
- Inherited disorder in which red blood cells are deformed and clog small arteries
- Common systemic manifestations: episodes of arm, leg, back, and stomach pain
- Common ophthalmic manifestations: hemorrhagic arteriolar occlusions in peripheral retina
- Ophthalmic manifestations common in Sickle-Hemoglobin C Disease and Sickle-Thalassemia Disease, less common in Sickle Cell Disease, and rare in Sickle Cell Trait
- Feared ophthalmic complications: vitreous hemorrhage, retinal detachment
102
Sickle Cell Disease. How does it appear?
- Patient will not have visual symptoms unless retinal bleeding or detachment occurs
- Indirect ophthalmoscopy discloses round orange patches in peripheral retina
103
Sickle Cell Disease. What else looks like it?
- Retinopathy of prematurity
- Posterior uveitis
- Diabetic retinopathy
- Von Hippel-Lindau disease
104
Sickle Cell Disease. How do you manage it?
- Refer any patient with Sickle-Hemoglobin C Disease or Sickle-Thalassemia Disease for baseline ophthalmologic examination
- Refer emergently patients with any variant of Sickle Cell Disease who suffer acute visual loss
105
Sickle Cell Disease. What will happen?
- Neglected retinopathy can lead to vitreous hemorrhage, retinal detachment, and blindness
- Laser photocoagulation can interrupt this cascade if applied early
106
Stevens-Johnson Syndrome. What is it?
- Hypersensitivity reaction to micro-organisms or medications (also called erythema multiforme, toxic epidermal necrolysis)
- Medications most commonly implicated: sulfonamides, anticonvulsants, salicylates, penicillin
- Vesiculobullous eruption on skin, mucous membranes
- Conjunctiva often involved, sometimes leading to scarring, dry eye, corneal clouding
- Early intensive lubrication, corticosteroid treatment, amniotic membrane grafts may preserve vision
107
Stevens-Johnson Syndrome. How does it appear?
- In acute phase, redness, swelling of conjunctiva, tearing, mucous discharge from both eyes
- In chronic phase, scarring and shortening of conjunctival fornix (symblepharon), drying and clouding of cornea
108
Stevens-Johnson Syndrome. What else looks like it?
- Infectious conjunctivitis (especially chlamydial, including trachoma), but eruption chronic and confined to eyes
- Allergic conjunctivitis, but manifestations more chronic
- Orbital cellulitis, but inflammation more in tissues around eyes
- Episcleritis and scleritis, but onset is slower
- Graves disease, but proptosis and lid retraction usually evident
- Cavernous sinus arteriovenous fistula, but findings confined to eyes
- Chronic cicatricial pemphigoid, but manifestations more chronic
109
Stevens-Johnson Syndrome. How do you manage it?
- Refer urgently to ophthalmologist if eyes appear involved, as topical treatments will be necessary
110
Stevens-Johnson Syndrome. What will happen?
- Systemic corticosteroids usually prescribed
- Resolution of eye findings is common in mild cases, but...
- In severe cases, aggressive ophthalmic measures critical to preserve vision
111
Systemic Hypertension. What is it?
- Persistently elevated blood pressure with or without anti-hypertensive treatment
- In acute stage, principal ophthalmic manifestations: narrowed retinal arterioles, cotton wool spots, flame-shaped hemorrhages, retinal infarction, optic disc edema (reflecting vessel leakage, occlusion)
- In chronic stage, principal ophthalmic manifestations: arteriovenous nicking, copper-wiring and silver-wiring (reflecting thickened, stiff arteriolar walls)
112
Systemic Hypertension. How does it appear?
- No visual symptoms unless cotton wool spots or hemorrhages very numerous or large, or located at or near fovea
- Cotton wool spots: feathery white patches in retinal surface layer that block view of underlying retina
- Flame-shaped hemorrhages: slender red streaks in retinal surface layer that block view of underlying retina
- Retinal infarcts: areas of gray turbidity
- Choroidal infarcts: areas of retinal pigment epithelial atrophy
- Optic disc edema: elevated and blurred optic disc margins, reflecting leakage of optic disc capillaries; not seen unless retinal abnormalities are severe
- Arteriovenous nicking: indentation and deflection of retinal veins as they cross stiff retinal arterioles
- Copper-wiring: shift in color of retinal arterioles from red to orange, as walls thicken and stiffen
- Silver-wiring: shift in color of retinal arterioles from red to white, as thickened wall obliterates blood column
113
Systemic Hypertension. What else looks like it?
- Diabetes mellitus, but dot-blot hemorrhages and hard exudates more common
- Purtscher retinopathy, but should have history of body trauma
- Blood dyscrasia, especially anemia (hemoglobin below 6 gm) and thrombocytopenia
- Radiation therapy to region of eyes
- Connective tissue diseases, including lupus erythematosus
- Systemic vasculitis
- Embolic retinopathy
114
Systemic Hypertension. How do you manage it?
- Refer patient with newly blurred vision in acute severe systemic hypertension urgently to ophthalmologist
- Refer patient without visual symptoms in acute or chronic systemic hypertension to ophthalmologist non-urgently to determine impact of hypertension on eyes as visible target organs
115
Systemic Hypertension. What will happen?
- If blood pressure is controlled, then...
- Hemorrhages spontaneously disappear within weeks
- Cotton wool spots disappear within weeks, leaving behind bothersome scotomas only if cotton wool spots were large or near fovea
- Optic disc edema disappears within weeks
- Retinal infarct turbidity disappears, leaving behind retinal atrophy and scotoma
116
Tay-Sachs Disease. What is it?
- Autosomal recessive disorder with deficiency of enzyme hexosaminidase A, which degrades ganglioside
- Ganglioside piles up in neurons, including retinal ganglion cells, causing cherry red spot
- Mental, physical, visual deterioration in infancy
- Death within 4 years of life
117
Tay-Sachs Disease. How does it appear?
- Progressively impaired vision but hard to recognize because of severe general disturbance of mental function
- Bright red ("cherry red") fovea in both eyes, which arises because...
- Fovea has no ganglion cells, and is surrounded by milky halo of retinal ganglion cells stuffed with ganglioside
118
Tay-Sachs Disease. What else looks like it?
- Other lysosomal disorders, including generalized gangliosidosis (GM 1), Sandhoff disease, Gaucher disease, mucolipidosis Types 1 and 2, Niemann-Pick Type A, and multiple sulfatase deficiency, distinguished by lab tests
- Central retinal artery occlusion, distinguished by not being found in infants, being rarely binocular, and causing acute vision loss
119
Tay-Sachs Disease. How do you manage it?
- Refer patient with suspected Tay-Sachs disease or other congenital metabolic disorders for ophthalmologic evaluation
120
Tay-Sachs Disease. What will happen?
- No effective treatment
- Progressive neurologic deterioration and death within 4 years of life
- Diagnosis important for prognosis, appropriate palliative care, genetic counseling
121
Thrombocytopenia. What is it?
- Low platelet count from many different causes
- Most common ophthalmic manifestion: retinal hemorrhages; occur commonly when platelet count falls below 20,000/mm3
122
Thrombocytopenia. How does it appear?
- Patients have blurred vision if retinal hemorrhage located at fovea or notice dark spot if hemorrhage is near fovea
- Hemorrhages may be...
- Dot-blot within retina
- Flame-shaped in retinal surface nerve fiber layer
- Bubble-shaped or boat-shaped between retina and vitreous
- White-centered ("Roth spots")
123
Thrombocytopenia. What else looks like it?
- Many other conditions produce retinal hemorrhages
- Dot-blot hemorrhages common in diabetes, hypertension
- Flame-shaped hemorrhages common in hypertension
- Bubble-shaped or boat-shaped hemorrhages common in abusive head trauma
124
Thrombocytopenia. How do you manage it?
- Refer only if patient complains of visual symptoms
125
Thrombocytopenia. What will happen?
- Retinal hemorrhages resolve spontaneously within weeks, but may recur if platelet count remains low
- Vision usually recovers to normal as hemorrhage clears, but foveal hemorrhages may leave behind slightly distorted vision
- Transfusions to raise platelet count necessary only if visual loss is severe and persistent
126
Toxoplasmosis. What is it?
- Infection with obligate intracellular protozoan Toxoplasma gondii
- Infections occur in neonates via maternal transmission, or...
- In adults as reactivation of dormant organisms acquired in utero, or...
- As acquired infections through ingestion of poorly cooked meat or cat feces
- Patients with AIDS and other immune-compromising conditions most vulnerable
- Most common ophthalmic manifestation: focal retinitis
- Less common ophthalmic manifestation: anterior uveitis
127
Toxoplasmosis. How does it appear?
- Yellow-white retinal infiltrate often adjacent to chorioretinal scar, usually located in macular region
- Retinitis usually reactivation of adjacent healed chorioretinal scar
- In neonates and immune-compromised patients, may see widespread necrotic retinopathy and focal brain lesions
128
Toxoplasmosis. What else looks like it?
- Chorioretinitis caused by herpes viruses, rubella, syphilis, toxocara canis, filarial worms, sarcoid, nocardia, candida
- Coats disease
- Vasculitis (including Behçet disease)
- Lymphoma
- Other Yellow-White Things in Retina
129
Toxoplasmosis. How do you manage it?
- Refer neonates suspected of having TORCH infection to ophthalmologist
130
Toxoplasmosis. What will happen?
- Diagnosis based on appearance of retinal lesion and positive ELISA blood test
- Treatment includes systemic pyrimethamine, sulfadiazine, clindamycin, atovaquone, prednisone
- Treatment effective in eliminating active lesions, but...
- Permanent vision impairment common even in healed chorioretinitis if macular region has been involved
131
Trigeminal Herpes Zoster. What is it?
- Infection by herpes zoster of anterior scalp, forehead, upper lid, nose, eye (first trigeminal dermatome)
- Activation of dormant virus in trigeminal ganglion
- Occurs mostly over age 60 and in immune-compromised
- Ophthalmic manifestations: lid vesicles, conjunctivitis, keratitis, uveitis, optic neuropathy, ophthalmoplegia
- Eye involvement especially common if tip of nose has vesicles ("Hutchinson’s sign")
132
Trigeminal Herpes Zoster. How does it appear?
- Periocular and forehead pain often severe and first manifestation
- Forehead vesicles
- Lid vesicles, like skin vesicles, that quickly become encrusted
- Corneal surface erosions ("epithelial keratitis") and opacities ("stromal keratitis")
- Cells and flare evident in slit lamp beam in anterior uveitis
- Elevated or depressed intraocular pressure secondary to uveitis
- Vision loss with afferent pupil defect in optic neuropathy
- Reduced eye movement sometimes with ptosis and mydriasis in ocular motor cranial nerve palsy
133
Trigeminal Herpes Zoster. What else looks like it?
- Herpes simplex infection, but vesicles do not "respect" boundaries of trigeminal dermatome
- Impetigo (infected scratch or bite), but eye is spared
- Orbital infection or tumor, but skin is spared
134
Trigeminal Herpes Zoster. How do you manage it?
- Refer to ophthalmologist to rule out eye involvement even if patient has no visual symptoms
135
Trigeminal Herpes Zoster. What will happen?
- Diagnosis based on finding vesicular dermatomal rash
- Treatment of immune-competent patients: oral antiviral agent (acyclovir 800mg 5x daily for 7-10 days or equivalents)
- Treatment of disseminated zoster infection and of immune-compromised patients: intravenous acyclovir
- Treatment of anterior uveitis or stromal keratitis: topical corticosteroid
- Early antiviral treatment reduces likelihood of eye involvement and post-herpetic neuralgia
136
Tuberous Sclerosis Complex. What is it?
- Autosomal dominantly inherited disorder with defect in gene coding for proteins that suppress tumor growth
- Systemic manifestations: tumors in brain, kidneys, heart, lungs
- Most common ophthalmic manifestation: retinal astrocytic hamartoma
- Subependymal giant cell astrocytoma (SEGA) causes hydrocephalus visible in eyes as papilledema
137
Tuberous Sclerosis Complex. How does it appear?
- Discrete tapioca-like mounds or white plaques on retinal surface
- Present in over 50% of cases
- Single or multiple
- Located near optic disc or remote from it
- Do not impair vision
- Papilledema from hydrocephalus caused by subependymal giant cell astrocytoma (SEGA) obstructing foramen of Monro
139
Tuberous Sclerosis Complex. How do you manage it?
- Refer patients suspected of having tuberous sclerosis complex for ophthalmoscopy because...
- Retinal astrocytic hamartomas among criteria for diagnosis, and...
- Papilledema indicates hydrocephalus caused by SEGA, and...
- Chronic papilledema may cause blindness unless high intracranial pressure relieved
140
Tuberous Sclerosis Complex. What will happen?
- Diagnosis based on fulfilling:
- One major criterion-two or more retinal hamartomas, SEGA, facial angiofibroma, ungual fibroma, or...
- Two minor criteria-single retinal hamartoma, infantile spasms, hypopigmented skin macules, shagreen patch, bilateral renal angiomyolipomata or cysts, cardiac rhabdomyoma, first-degree relative with this condition
- Treatment directed at clinical manifestations
- Patients with hydrocephalus may undergo surgical excision of SEGA and/or ventriculoperitoneal shunting
- Delayed diagnosis of hydrocephalus may worsen mental status, control of seizures, visual outcome
141
Visual Cortex Infarction. What is it?
- Ischemic stroke of visual cortex
- May be unilateral or bilateral
- Caused by systemic hypotension, vertebrobasilar or cardiac embolism, hypercoagulability
142
Visual Cortex Infarction. How does it appear?
- Acute loss of vision
- Homonymous hemianopia, unilateral or bilateral
- Confrontation visual field testing may disclose these defects, but formal visual field testing more sensitive
- Visual acuity preserved if hemianopia unilateral, but often severely compromised if hemianopia bilateral
- Eye examination otherwise normal
- Brain CT shows occipital lucency within 48 hours of symptom onset
- Brain MRI diffusion-weighted sequence shows unilateral or bilateral occipital signal abnormality within 2 hours of symptom onset
144
Visual Cortex Infarction. How do you manage it?
- Refer patient urgently to ophthalmologist, who may refer to emergency room physician, neuro-ophthalmologist, internist, depending on findings
145
Visual Cortex Infarction. What will happen?
- If imaging discloses acute stroke, patient will be placed on anti-platelet agent and evaluated for embolic source or other cause
- Vision recovery usually limited and complete within 4 weeks of symptom onset
146
Von Hippel-Lindau Disease. What is it?
- Autosomal dominant disorder marked by proliferation of tumors
- Caused by mutation in tumor suppressor gene on chromosome 3
- 80% familial, 20% sporadic
- Capillary hemangiomas of retina, cerebellum, and spinal cord, and...
- Renal cell carcinoma and pheochromocytoma, and...
- Pancreatic cysts
147
Von Hippel-Lindau Disease. How does it appear?
- Yellow mound in retinal periphery drained by large draining vein
- Found in over 60% of patients
- Most lesions have not bled and therefore do not cause symptoms
148
Von Hippel-Lindau Disease. What else looks like it?
- Many conditions cause yellow mounds in retina, but large draining vein is distinctive
149
Von Hippel-Lindau Disease. How do you manage it?
- Refer any patient with suspected von Hippel-Lindau disease to ophthalmologist to search for retinal lesions
150
Von Hippel-Lindau Disease. What will happen?
- Some lesions will bleed and impair vision, so may need preventive treatment with...
- Laser photocoagulation, which destroys small lesions
- Cryotherapy applied to sclera, which destroys large lesions
- Patients with retinal hemangiomas have 25% chance of having other manifestations of von Hippel-Lindau disease
151
Wilson Disease. What is it?
- Autosomal recessive disorder with copper accumulation in liver, brain, cornea
- Major systemic manifestations: liver dysfunction and parkinsonism
- Main ophthalmic manifestation: Kayser-Fleischer ring
152
Wilson Disease. How does it appear?
- Subtle golden brown or greenish-brown discoloration of corneal limbus
- Caused by copper accumulation in Descemet membrane deep within cornea
- Present in over 90% of cases with neurologic involvement but in less than 50% with liver involvement alone
- Best seen at top and bottom of cornea, but...
- Special instruments needed to identify it
- Multi-colored cataract with radiating spokes ("sunflower cataract") occurs in 20% of cases
153
Wilson Disease. What else looks like it?
- Primary biliary cirrhosis
- Intrahepatic cholestasis
- Biliary atresia
- Hepatocellular disorders, but...
- These non-Wilson diseases produce corneal rings only if total bilirubin rises acutely above 20 mg/dl
154
Wilson Disease. How do you manage it?
- Refer patient suspected of Wilson disease to ophthalmologist to check for Kayser-Fleischer corneal ring and sunflower cataract
155
Wilson Disease. What will happen?
- Diagnosis rests on finding Kayser-Fleischer ring, high urinary copper, low serum ceruloplasmin, low serum copper, and high copper on liver biopsy, but...
- Serum, urine, and biopsy results may not be definitive, so Kayser-Fleischer ring is critical finding
- Treatment with penicillamine, zinc, or ammonium tetrathiomolybdate most effective if started early
- Kayser-Fleischer ring disappears as tissue copper levels fall, but...
- Its disappearance does not mean that neurologic manifestations will reverse
Emma the Optom
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