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Choroideremia – What is it?
Rare X-linked chorioretinal dystrophy causing progressive degeneration of choroid, RPE and photoreceptors.
Choroideremia – Symptoms?
Nyctalopia in adolescence, mid-peripheral field loss progressing to tunnel vision; central vision preserved until late.
Choroideremia – Hallmark signs?
Patchy mid-peripheral atrophy of choroid and RPE progressing to exposed sclera with attenuated vessels; macula spared until late.
Choroideremia – Management?
No cure; genetic counselling; low vision aids; gene therapy trials under investigation.
Gyrate Atrophy – What is it?
Autosomal recessive chorioretinal dystrophy due to ornithine aminotransferase (OAT) deficiency causing elevated plasma ornithine.
Gyrate Atrophy – Symptoms?
Nyctalopia in teens, progressive field loss, high myopia and astigmatism, poor prognosis; legally blind by 50.
Gyrate Atrophy – Hallmark signs?
Scalloped, sharply demarcated areas of chorioretinal atrophy spreading centrally; spared fovea until late.
Gyrate Atrophy – Management?
Vitamin B6 supplements (stimulate OAT), arginine-restricted diet, low vision rehab, genetic counselling.
Optic Neuritis – What is it?
Inflammation of the optic nerve causing painful vision loss; often associated with demyelinating disease such as MS.
Optic Neuritis – Types?
Papillitis (swollen disc), Retrobulbar neuritis (normal disc), Neuroretinitis (disc swelling + macular star).
Optic Neuritis – Symptoms?
Acute vision loss (6/18–6/60), eye pain on movement, colour desaturation, central scotoma, RAPD.
Optic Neuritis – Management?
IV methylprednisolone for 3 days + oral taper; MRI for MS; vision usually recovers to 6/9 or better.
Neuroretinitis – What is it?
Inflammation of optic disc and retina, often due to Bartonella (cat scratch fever).
Neuroretinitis – Hallmark sign?
Macular star pattern from lipid exudates; papillitis and peripapillary oedema.
Neuroretinitis – Management?
Investigate systemic infection; prognosis good for visual recovery.
Multiple Sclerosis – Ocular effects?
May cause recurrent optic neuritis and cystoid macular oedema (especially with Gilenya).
Multiple Sclerosis – Management?
Monitor with OCT and Amsler grid; manage with immunomodulating drugs; refer to neurologist.
Neuromyelitis Optica – What is it?
Autoimmune demyelinating disorder affecting optic nerves and spinal cord; causes bilateral optic neuritis + myelitis.
Neuromyelitis Optica – Management?
IV steroids for acute attack; long-term immunosuppressants such as Rituximab; urgent referral.
Optic Atrophy – What is it?
Optic nerve pallor due to axonal loss from retinal or retrobulbar disease.
Primary Optic Atrophy – What is it?
Atrophy without prior swelling; causes include MS, trauma, compressive lesions.
Primary Optic Atrophy – Signs?
Pale flat disc with sharp margins, vessel attenuation, RNFL thinning.
Secondary Optic Atrophy – What is it?
Atrophy following chronic disc swelling (papilloedema, AION).