OD week3

Question 1

Choroideremia – What is it?

Answer 1

Rare X-linked chorioretinal dystrophy causing progressive degeneration of choroid, RPE and photoreceptors.

Question 2

Choroideremia – Symptoms?

Answer 2

Nyctalopia in adolescence, mid-peripheral field loss progressing to tunnel vision; central vision preserved until late.

Question 3

Choroideremia – Hallmark signs?

Answer 3

Patchy mid-peripheral atrophy of choroid and RPE progressing to exposed sclera with attenuated vessels; macula spared until late.

Question 4

Choroideremia – Management?

Answer 4

No cure; genetic counselling; low vision aids; gene therapy trials under investigation.

Question 5

Gyrate Atrophy – What is it?

Answer 5

Autosomal recessive chorioretinal dystrophy due to ornithine aminotransferase (OAT) deficiency causing elevated plasma ornithine.

Question 6

Gyrate Atrophy – Symptoms?

Answer 6

Nyctalopia in teens, progressive field loss, high myopia and astigmatism, poor prognosis; legally blind by 50.

Question 7

Gyrate Atrophy – Hallmark signs?

Answer 7

Scalloped, sharply demarcated areas of chorioretinal atrophy spreading centrally; spared fovea until late.

Question 8

Gyrate Atrophy – Management?

Answer 8

Vitamin B6 supplements (stimulate OAT), arginine-restricted diet, low vision rehab, genetic counselling.

Question 9

Optic Neuritis – What is it?

Answer 9

Inflammation of the optic nerve causing painful vision loss; often associated with demyelinating disease such as MS.

Question 10

Optic Neuritis – Types?

Answer 10

Papillitis (swollen disc), Retrobulbar neuritis (normal disc), Neuroretinitis (disc swelling + macular star).

Question 11

Optic Neuritis – Symptoms?

Answer 11

Acute vision loss (6/18–6/60), eye pain on movement, colour desaturation, central scotoma, RAPD.

Question 12

Optic Neuritis – Management?

Answer 12

IV methylprednisolone for 3 days + oral taper; MRI for MS; vision usually recovers to 6/9 or better.

Question 13

Neuroretinitis – What is it?

Answer 13

Inflammation of optic disc and retina, often due to Bartonella (cat scratch fever).

Question 14

Neuroretinitis – Hallmark sign?

Answer 14

Macular star pattern from lipid exudates; papillitis and peripapillary oedema.

Question 15

Neuroretinitis – Management?

Answer 15

Investigate systemic infection; prognosis good for visual recovery.

Question 16

Multiple Sclerosis – Ocular effects?

Answer 16

May cause recurrent optic neuritis and cystoid macular oedema (especially with Gilenya).

Question 17

Multiple Sclerosis – Management?

Answer 17

Monitor with OCT and Amsler grid; manage with immunomodulating drugs; refer to neurologist.

Question 18

Neuromyelitis Optica – What is it?

Answer 18

Autoimmune demyelinating disorder affecting optic nerves and spinal cord; causes bilateral optic neuritis + myelitis.

Question 19

Neuromyelitis Optica – Management?

Answer 19

IV steroids for acute attack; long-term immunosuppressants such as Rituximab; urgent referral.

Question 20

Optic Atrophy – What is it?

Answer 20

Optic nerve pallor due to axonal loss from retinal or retrobulbar disease.

Question 21

Primary Optic Atrophy – What is it?

Answer 21

Atrophy without prior swelling; causes include MS, trauma, compressive lesions.

Question 22

Primary Optic Atrophy – Signs?

Answer 22

Pale flat disc with sharp margins, vessel attenuation, RNFL thinning.

Question 23

Secondary Optic Atrophy – What is it?

Answer 23

Atrophy following chronic disc swelling (papilloedema, AION).

Question 24

Secondary Optic Atrophy – Signs?

Answer 24

Pale swollen disc, glial tissue on surface, filled-in cup, Paton lines possible.

Question 25

Consecutive Optic Atrophy – What is it?

Answer 25

Follows retinal disease (RP, CRAO, laser); waxy yellow disc with vessel attenuation.

Question 26

Leber’s Hereditary Optic Neuropathy – What is it?

Answer 26

Mitochondrial DNA mutation causing sudden bilateral central vision loss in young men.

Question 27

Leber’s Hereditary Optic Neuropathy – Symptoms?

Answer 27

Painless central vision loss, RAPD, colour vision defect, central scotoma, fellow eye affected soon.

Question 28

Leber’s Hereditary Optic Neuropathy – Signs?

Answer 28

Disc hyperaemia, vascular tortuosity, pseudo-oedema, juxtapapillary telangiectasia.

Question 29

Leber’s Hereditary Optic Neuropathy – Management?

Answer 29

No treatment; low vision aids; genetic counselling.

Question 30

Nutritional and Toxic Optic Neuropathy – What is it?

Answer 30

Optic atrophy from B-vitamin deficiency, alcohol abuse, or toxic drugs (ethambutol, isoniazid, amiodarone, vigabatrin).

Question 31

Nutritional and Toxic Optic Neuropathy – Symptoms?

Answer 31

Bilateral painless vision loss, colour desaturation, central or centrocecal scotomas.

Question 32

Nutritional and Toxic Optic Neuropathy – Management?

Answer 32

Correct deficiencies or stop offending drug; early treatment leads to good prognosis.

Question 33

Peripheral Cystoid Degeneration – What is it?

Answer 33

Age-related microcystic changes near ora serrata; benign, common in adults.

Question 34

Peripheral Cystoid Degeneration – Management?

Answer 34

Routine monitoring; may occasionally progress to retinoschisis.

Question 35

Reticular (Honeycomb) Degeneration – What is it?

Answer 35

Age-related peripheral pigmentation forming net-like pattern in equatorial retina; benign.

Question 36

Pavingstone Degeneration – What is it?

Answer 36

Common chorioretinal thinning and atrophy near equator; 30% prevalence; benign.

Question 37

Pavingstone Degeneration – Hallmark sign?

Answer 37

Yellow-white discrete patches with pigment borders, most often inferior retina.

Question 38

Peripheral (Equatorial) Drusen – What is it?

Answer 38

Age-related yellow drusen with pigment cuff in equatorial region; benign.

Question 39

Degenerative Retinoschisis – What is it?

Answer 39

Splitting of neurosensory retina in periphery; dome-shaped elevation, often inferotemporal.

Question 40

Degenerative Retinoschisis – Symptoms?

Answer 40

Usually asymptomatic; may cause field defect if large.

Question 41

Degenerative Retinoschisis – Complications?

Answer 41

Rare progression to retinal detachment; may cause vitreous haemorrhage.

Question 42

Degenerative Retinoschisis – Management?

Answer 42

Annual dilated exam; advise warning signs of retinal detachment.

Question 43

White Without Pressure – What is it?

Answer 43

Peripheral translucent white-grey retinal area due to strong vitreoretinal adhesion.

Question 44

White Without Pressure – Risk?

Answer 44

Occasional giant retinal tear at posterior margin.

Question 45

White Without Pressure – Management?

Answer 45

Regular review with dilated exam; refer if retinal break or tear seen.

Question 46

Lattice Degeneration – What is it?

Answer 46

Peripheral retinal thinning with crisscross white lines and pigment; common (6–10%).

Question 47

Lattice Degeneration – Complications?

Answer 47

Small risk of retinal detachment (0.5–1%), higher if myopic or family history.

Question 48

Lattice Degeneration – Management?

Answer 48

Review 6–12 monthly; prophylactic laser if large, myopic, or pre-surgical (e.g., cataract).

Question 49

Retinal Breaks – What are they?

Answer 49

Full-thickness defects in sensory retina, often due to PVD or trauma.

Question 50

Retinal Breaks – Types?

Answer 50

Flap (horseshoe), operculated, dialysis, giant tear, atrophic hole.

Question 51

Retinal Breaks – Symptoms?

Answer 51

Flashes, floaters; asymptomatic if chronic or atrophic.

Question 52

Retinal Breaks – Management?

Answer 52

Urgent referral if fluid or Shafer’s sign; laser photocoagulation to prevent detachment.

Question 53

Shafer’s Sign – What is it?

Answer 53

Tobacco dust (pigmented cells) in anterior vitreous indicating retinal tear.

Question 54

Shafer’s Sign – Management?

Answer 54

Urgent referral to retinal specialist even if tear not visible.