1
Q
What is Leber’s Congenital Amaurosis (LCA)?
A
A group of rare, inherited retinal dystrophies causing severe visual impairment at birth or within the first year of life.
2
Q
Mode of inheritance of LCA?
A
Mostly autosomal recessive, rarely autosomal dominant.
3
Q
Key genes implicated in LCA?
A
RPE65, CEP290, GUCY2D, CRB1, AIPL1, RDH12 (over 25 genes identified).
4
Q
Typical age of onset in LCA?
A
Congenital or within the first year of life.
5
Q
Clinical features of LCA?
A
Severe vision loss from birth, nystagmus, poor or absent pupillary light reflex, photophobia, paradoxical light fixation, oculodigital sign.
6
Q
What is the oculodigital sign in LCA?
A
Repetitive eye poking/rubbing → can cause enophthalmos, keratoconus, cataract.
7
Q
Fundus findings in early LCA?
A
May appear normal in infancy.
8
Q
Fundus findings in later LCA?
A
Pigmentary changes resembling retinitis pigmentosa, vessel attenuation, macular atrophy, optic disc pallor.
9
Q
ERG findings in LCA?
A
Electroretinogram (ERG) is absent or severely reduced from birth.
10
Q
Differential diagnoses of LCA?
A
Early-onset retinitis pigmentosa, congenital stationary night blindness, achromatopsia, severe amblyopia.
11
Q
Syndromic associations of LCA?
A
Senior-Løken syndrome, Joubert syndrome, Bardet-Biedl syndrome.
12
Q
Mainstay of current management in LCA?
A
Low vision aids, educational rehabilitation, genetic counseling.
13
Q
Gene therapy approved for LCA?
A
Voretigene neparvovec (Luxturna®) for RPE65 mutation-associated LCA.
14
Q
Other treatment considerations in LCA?
A
Management of keratoconus and cataract if visually significant.
15
Q
Prognosis of LCA?
A
Severe lifelong visual impairment, usually non-progressive to slowly progressive, varies by genotype.
16
Q
What is Retinitis Pigmentosa (RP)?
A
A group of inherited progressive retinal dystrophies with degeneration of rods, cones, and RPE leading to night blindness, field loss, and vision loss.
17
Q
What is the inheritance pattern of RP?
A
Autosomal dominant (20–25%), autosomal recessive (15–20%), X-linked (10–15%), and sporadic cases.
18
Q
Most severe inheritance type of RP?
A
X-linked RP.
19
Q
Genes commonly involved in RP?
A
RHO, RPGR, RP2, PRPH2, USH2A, PDE6B (over 100 genes).
20
Q
What is the earliest symptom of RP?
A
Nyctalopia (night blindness) due to rod dysfunction.
21
Q
What are the typical symptoms of RP?
A
Nyctalopia, peripheral visual field loss (tunnel vision), decreased central vision later, photopsias.
22
Q
What is the classic fundus triad of RP?
A
Bone-spicule pigmentation, vessel attenuation, optic disc pallor.
23
Q
What are common associated ocular findings in RP?
A
Posterior subcapsular cataract, cystoid macular edema, vitreous cells.
24
Q
How does the visual field change in RP?
A
Mid-peripheral scotomas → ring scotoma → tunnel vision.
25
ERG findings in RP?
Reduced scotopic (rod) response early, later cone loss → extinguished ERG.
26
What is sectoral RP?
A localized form affecting only certain quadrants.
27
What is RP sine pigmento?
Retinitis pigmentosa without pigmentary changes, fundus appears normal.
28
What is inverse RP?
A form with early macular involvement rather than peripheral.
29
Most common systemic syndrome associated with RP?
Usher syndrome (RP + sensorineural hearing loss).
30
Other syndromes associated with RP?
Bardet-Biedl (obesity, polydactyly, renal), Refsum disease, mitochondrial disorders (Kearns-Sayre, NARP).
31
Differential diagnosis of RP?
Choroideremia, gyrate atrophy, cone-rod dystrophy, inflammatory/secondary retinitis.
32
Current management of RP?
Low vision aids, cataract/CME management, genetic counseling.
33
Emerging treatments for RP?
Gene therapy (RPE65-related), retinal prosthesis (Argus II), optogenetics, stem cell therapy.
34
Role of Vitamin A in RP?
High-dose Vitamin A may slow progression in some forms (controversial, genotype-specific).
35
Prognosis of RP?
Gradual progression, often legal blindness by 40–60 years, variable depending on genotype.
36
What is Stargardt disease?
The most common inherited macular dystrophy, causing progressive central vision loss in childhood/adolescence.
37
What is the inheritance pattern of Stargardt disease?
Mostly autosomal recessive (ABCA4 mutation); rare autosomal dominant forms (ELOVL4, PROM1).
38
What is the gene most commonly mutated in Stargardt disease?
ABCA4 gene (ATP-binding cassette transporter).
39
What is the pathophysiology of Stargardt disease?
Defective transport of all-trans-retinal → accumulation of toxic bisretinoid A2E in RPE → lipofuscin buildup → RPE and photoreceptor damage.
40
What is the usual age of onset in Stargardt disease?
Childhood to early adulthood.
41
What are the main symptoms of Stargardt disease?
Progressive central vision loss, dyschromatopsia, difficulty reading, photophobia.
42
What are the characteristic fundus findings in Stargardt disease?
Bilateral yellow-white pisciform (fish-tail shaped) flecks at RPE, macular atrophy with 'beaten bronze' or bull’s-eye appearance, RPE mottling.
43
What is the classic fluorescein angiography finding in Stargardt disease?
'Dark choroid sign' due to blockage of choroidal fluorescence by lipofuscin.
44
What does OCT show in Stargardt disease?
Macular thinning, loss of outer retinal layers, hyperreflective deposits.
45
What does fundus autofluorescence (FAF) show in Stargardt disease?
Areas of hyperautofluorescence (lipofuscin deposits) and hypoautofluorescence (RPE atrophy).
46
What are the ERG findings in Stargardt disease?
Usually normal full-field ERG; multifocal ERG shows macular dysfunction.
47
What are the differential diagnoses of Stargardt disease?
Age-related macular degeneration, Best disease, cone dystrophy, chloroquine/hydroxychloroquine toxicity.
48
What is the current management of Stargardt disease?
Supportive care: low vision aids, UV-blocking sunglasses, avoid excessive Vitamin A.
49
Why should high Vitamin A intake be avoided in Stargardt disease?
Because it increases lipofuscin accumulation and may worsen retinal damage.
50
What emerging therapies are under trial for Stargardt disease?
Gene therapy (ABCA4), stem cell therapy, visual cycle modulators, complement inhibitors.
51
What is the visual prognosis in Stargardt disease?
Progressive central vision loss, often leading to legal blindness in adulthood, but peripheral vision usually preserved.
52
What is Usher syndrome?
Most common cause of combined deafness and blindness; autosomal recessive disorder with hearing loss + retinitis pigmentosa ± vestibular dysfunction.
53
What is the inheritance of Usher syndrome?
Autosomal recessive.
54
What are the three core features of Usher syndrome?
Sensorineural hearing loss, retinitis pigmentosa, vestibular dysfunction.
55
What are the types of Usher syndrome?
Type I, Type II, Type III.
56
Features of Usher syndrome Type I?
Congenital profound deafness, absent vestibular function, RP onset in childhood.
57
Features of Usher syndrome Type II?
Congenital moderate-to-severe hearing loss, normal vestibular function, RP onset in adolescence.
58
Features of Usher syndrome Type III?
Progressive post-lingual hearing loss, variable vestibular function, RP onset adolescence/adulthood.
59
Ocular findings in Usher syndrome?
Night blindness, peripheral → tunnel vision, RP fundus triad (bone-spicule pigment, vessel attenuation, disc pallor).
60
Systemic associations of Usher syndrome?
Mainly auditory and vestibular; no systemic organ involvement.
61
Management of Usher syndrome?
Hearing aids/cochlear implant, low vision aids, cataract/CME treatment, rehabilitation, genetic counseling.
62
Prognosis of Usher syndrome?
Progressive hearing and vision loss; Type I worst prognosis.
63
What is the incidence of retinoblastoma?
Occurs in up to 1:18,000 live births; most common primary intraocular malignancy of childhood; about 3% of all childhood cancers.
64
What is the second most common malignant intraocular tumour after uveal melanoma?
Retinoblastoma.
65
What is the survival rate of retinoblastoma in specialized centres?
Over 95%, with high rates of globe salvage and vision preservation.
66
What is the most common presentation of retinoblastoma?
Leukocoria (white pupillary reflex), in 60% of cases.
67
What is the second most common presentation of retinoblastoma?
Strabismus (20% of cases).
68
Where may retinoblastoma metastasize to?
Regional nodes, lung, brain, bone.
69
Which gene is mutated in retinoblastoma?
RB1 tumour suppressor gene.
70
What is Knudson’s two-hit hypothesis in retinoblastoma?
One germline mutation + a second somatic mutation causes malignant transformation.
71
What proportion of retinoblastoma cases are heritable?
About 40%.
72
What are features of heritable retinoblastoma?
Bilateral, multifocal tumours; predisposition to non-ocular cancers (pinealoblastoma, osteosarcoma, soft tissue sarcoma, melanoma).
73
What is trilateral retinoblastoma?
Retinoblastoma with associated pinealoblastoma, seen in up to 10% of heritable cases before age 5.
74
What is the risk of second malignancy in heritable retinoblastoma?
About 6%, but 5× higher with external beam irradiation.
75
What are features of non-heritable retinoblastoma?
Usually unilateral, not transmissible, no predisposition to second cancers.
76
What is the sibling risk if parents are unaffected in heritable retinoblastoma?
About 2%.
77
What is the sibling risk if one parent is affected in heritable retinoblastoma?
About 40%.
78
What is the inheritance pattern of germline RB1 mutations?
Autosomal dominant with incomplete penetrance (40%).
79
What is the International Classification Group A retinoblastoma?
Small intraretinal tumours (<3 mm) away from foveola and disc.
80
What is Group B retinoblastoma?
Tumours >3 mm, macular/juxtapapillary location, or with subretinal fluid.
81
What is Group C retinoblastoma?
Tumour with focal subretinal or vitreous seeding within 3 mm.
82
What is Group D retinoblastoma?
Diffuse subretinal or vitreous seeding >3 mm from tumour.
83
What is Group E retinoblastoma?
Extensive tumour >50% of globe, or with neovascular glaucoma, haemorrhage, optic nerve/anterior chamber invasion.
84
What is the role of ultrasound in retinoblastoma diagnosis?
Assesses tumour size; detects calcification; helps exclude mimics like Coats disease.
85
Why is CT avoided in retinoblastoma diagnosis?
Radiation exposure risk, though it detects calcification.
86
What is MRI useful for in retinoblastoma?
Evaluating optic nerve, extraocular extension, and pinealoblastoma.
87
What is the mainstay of retinoblastoma treatment?
Chemotherapy, often with focal consolidation.
88
What chemotherapy regimen is commonly used in retinoblastoma?
Carboplatin, Etoposide, Vincristine (CEV).
89
What is selective ophthalmic artery infusion chemotherapy?
Delivery of melphalan/topotecan via femoral → ophthalmic artery; high globe salvage in Group D eyes.
90
What is intravitreal chemotherapy used for in retinoblastoma?
For vitreous seeding (melphalan).
91
What focal therapies are used after chemo-reduction?
TTT, cryotherapy, brachytherapy.
92
When is brachytherapy indicated in retinoblastoma?
For anterior tumours without vitreous seeding or chemo-resistant cases.
93
Why is external beam radiotherapy avoided in retinoblastoma?
High risk of inducing second malignancy in heritable cases; late adverse effects.
94
When is enucleation indicated in retinoblastoma?
Neovascular glaucoma, anterior chamber infiltration, optic nerve invasion, >50% vitreous occupied (Group E), diffuse retinoblastoma, or failed chemo-reduction.
95
What adjuvant therapy is given for retinoblastoma with extraocular extension?
Chemotherapy (6 months CEV), external beam radiotherapy if tumour at cut optic nerve end.
96
What are the differential diagnoses of leukocoria mimicking retinoblastoma?
Persistent fetal vasculature, Coats disease, Retinopathy of prematurity, Toxocariasis, Uveitis, Vitreoretinal dysplasia, Retinoma, Retinal astrocytoma.
97
What is retinoma (retinocytoma)?
A benign variant of retinoblastoma with potential for late malignant transformation; appears as smooth whitish dome-shaped lesion, often calcified with RPE changes.
98
Which stages of macular hole are indications for surgery?
Symptomatic stage 2 3 4
99
What is the aim of macular hole surgery?
Relieve vitreomacular traction and provide tamponade.
100
What is the standard surgical technique for macular hole?
Pars plana vitrectomy with ILM peel and gas tamponade.
101
Which vital dyes are used for ILM staining?
BBG
Indocyanine green
102
How much ILM is peeled in standard surgery?
About 2 disc diameters around fovea.
103
Which gases are used for tamponade in macular hole surgery?
Air
SF6
C3F8
104
How long is postoperative prone positioning required?
Strict prone position for ~3 days.
105
What is the principle of the inverted ILM flap technique?
Leave ILM edge attached
106
Which modification of ILM flap involves a pedunculated flap?
ILM hinge technique by Andrew et al.
107
What is hemitemporal ILM peeling?
Peeling only temporal ILM (nasal spared) to allow retinal relaxation.
108
Which flap technique is used for chronic large holes with multiple overlapping flaps?
Cabbage-leaf ILM flap.
109
What prognostic factors predict good outcomes?
Short symptom duration (<6 months)
110
What macular hole indices indicate good prognosis?
MH index >0.5 and Hole Form Factor >0.9.
111
What does hyperautofluorescence at the base of a hole on FAF suggest?
Healthy RPE and good prognosis.
112
What are the advantages of air tamponade?
Less posturing
113
Is face-down positioning always necessary?
Helpful for holes >400 µm; not always needed for <400 µm.
114
What is the role of silicone oil in macular hole surgery?
Used for patients unable to posture; closure rates similar but VA outcomes less.
115
What is ocriplasmin used for?
Pharmacologic vitreolysis for small (<400 µm) holes with VMT.
116
What was closure rate with ocriplasmin in MIVI-TRUST?
40.6% vs 10.6% with placebo.
117
What surgical options exist for failed macular holes?
ILM autograft
118
What are challenges in macular hole surgery?
Large
119
What are intraoperative aids for flap placement in complex cases?
Perfluorocarbon liquid
120
What complications may occur after macular hole surgery?
Reopening
121
What complications are associated with ILM peeling?
RNFL hemorrhage
Iatrogenic retinal breaks
122
What is SANFL?
Swelling of arcuate RNFL after ILM peel
123
What is DONFL?
Dissociated optic nerve fiber layer
124
Which dye is safest for ILM peeling?
Brilliant Blue G 0.025
(Trypan Blue 0.15
Trypan blue for anterior capsule is 0.06)
125
Why is ICG dye less preferred?
Associated with RPE toxicity
126
What does Membrane Blue-Dual stain?
ERM (via Trypan Blue) + ILM (via BBG).
127
What is type 1 closure?
Anatomical closure with no foveal defect (U-type or V-type); better VA.
128
What is type 2 closure in Macular Hole?
Persistent neurosensory defect with bare RPE (“W-type”); poorer VA.
129
What is non-closure?
Persistent open hole with elevated edges and cuff of fluid.
130
Which closure type gives best VA?
U-type > V-type > W-type.
131
What are OCT criteria for lamellar macular hole?
WITKINS
1. Irregular foveal contour
2. Break in the inner fovea
3. Dehiscence of inner foveal retina from outer retina
4. Absence of a full thickness foveal defect and presence of intact foveal PR
132
When should lamellar holes be observed?
When visual acuity is good and stable.
133
When should lamellar holes undergo surgery?
When VA deteriorates.
134
DAVINCI
Aflibercept led to significant and sustained BCVA gains and CRT reduction vs laser in DME at 1 year.
135
VISTA/VIVID
Aflibercept was superior to laser for vision and anatomy in DME, with benefits sustained up to 3 years.
136
BOLT
Bevacizumab injections provided better visual outcomes than macular laser in center-involving DME.
137
RESOLVE
Ranibizumab gave large BCVA and CRT improvements vs sham in DME at 12 months.
138
RIDE/RISE
Ranibizumab produced strong, durable vision and anatomic gains in DME up to 36 months; delayed treatment was less effective.
139
Protocol I
Ranibizumab (with prompt or deferred laser) improved vision in DME more than laser alone, with durable retinopathy benefits.
140
Protocol T
All anti-VEGF agents improved vision in DME; aflibercept was superior in eyes with worse baseline VA (<20/50), though differences narrowed over time.
141
Protocol V
In eyes with center-involving DME and good vision, observation with close follow-up was as effective as aflibercept or laser at 2 years.
142
BOULEVARD
Faricimab showed greater BCVA gains than ranibizumab in DME and allowed extension to 16-week dosing.
143
YOSEMITE
Faricimab with flexible dosing up to 16 weeks was non-inferior to aflibercept q8 weeks for vision in DME.
144
RHINE
Faricimab matched aflibercept efficacy in DME, with many patients maintained on 12–16 week dosing intervals by 2 years.
Eye
flashcards
Decks in class (23)
# Cards
-
Glaucoma46
-
Proptosis3
-
Lasers In Glaucoma9
-
Cataract102
-
Glaucoma 25
-
Trials In Glaucoma19
-
TRON3
-
Orbit21
-
Uveitis21
-
Squint80
-
Eyelids114
-
Glaucoma Surgery87
-
Corneal Ulcer35
-
Primary Congenital Glaucoma7
-
Miscellaneous37
-
Cornea95
-
Neuro-ophthalmology129
-
Optics132
-
Injury34
-
Retina144
-
Retina Anatomy24
-
Lens Anatomy7
-
Dry Eye32
