⚡ What is Choroideremia?
A rare, inherited, bilateral progressive degeneration of the choroid, RPE and photoreceptors. X-linked recessive inheritance.
What are the symptoms of Choroideremia?
Nyctalopia in adolescence followed by mid-peripheral field loss progressing to tunnel vision. Central vision preserved until late stage.
What are the fundus changes in Choroideremia?
Early: mid-peripheral patches of choroidal and RPE atrophy. Mid: diffuse choriocapillaris and RPE atrophy. End: extensive atrophy with isolated choroidal vessels over bare sclera.
What is the treatment for Choroideremia?
No effective treatment. Low vision aids and rehabilitation may be required. Genetic counselling important. Gene therapy trials underway.
⚡ What causes Gyrate Atrophy?
Autosomal recessive deficiency of Ornithine Aminotransferase (OAT), causing elevated plasma, urine and CSF ornithine levels.
What are the signs of Gyrate Atrophy?
Midperipheral depigmented spots progressing to scalloped areas of atrophy with blood vessel attenuation and optic atrophy. Fovea spared until late stage.
What are the symptoms of Gyrate Atrophy?
Nyctalopia in teens or twenties, high myopia and astigmatism, slowly progressive mid-peripheral field loss leading to tunnel vision.
What is the treatment for Gyrate Atrophy?
Vitamin B6 supplementation and arginine-restricted diet to reduce ornithine levels. Low vision rehabilitation and genetic counselling.
⚡ What is Optic Neuritis?
Inflammation of the optic nerve causing painful loss of vision. Can be papillitis, retrobulbar optic neuritis, or neuroretinitis.
What are the causes of Optic Neuritis?
Infectious, post-infectious, non-infectious (sarcoid, autoimmune), or demyelinating (Multiple Sclerosis).
Describe typical Optic Neuritis presentation.
Unilateral acute blurred vision (6/18–6/60) with pain on eye movement, central scotoma, colour desaturation, RAPD, and worsened vision with heat or exercise (Uhthoff’s phenomenon).
What is the management for Optic Neuritis?
1g IV methylprednisolone daily for 3 days followed by tapering oral steroids for 11 days. MRI for MS screening. Vision recovery to 6/9 or better in most cases.
⚡ What ocular complication can occur with MS treatment (fingolimod)?
Cystoid macular oedema, especially in early stages or in patients with history of uveitis or diabetes.
⚡ What is Neuromyelitis Optica (Devic’s disease)?
A rare inflammatory demyelinating disease of the CNS affecting the optic nerve and spinal cord. Causes bilateral optic neuritis and acute myelitis.
What is the treatment for Neuromyelitis Optica?
IV steroids for acute episodes and Rituximab (immunosuppressant) for continuous management.
What is Neuroretinitis and its main cause?
Combination of optic neuritis and retinal inflammation, most commonly caused by Cat-scratch fever (Bartonella henselae).
What are the clinical features of Neuroretinitis?
Painless unilateral visual loss, papillitis with macular oedema and macular star formation. Usually good prognosis.
⚡ What causes Leber’s Hereditary Optic Neuropathy?
Mutations in maternal mitochondrial DNA, transmitted only by mothers to offspring.
Who is commonly affected by Leber’s Hereditary Optic Neuropathy?
Men aged 15–35, occasionally females aged 10–60.
What are the signs of Leber’s Hereditary Optic Neuropathy?
Unilateral acute painless loss of central vision with RAPD, central scotoma, mild disc hyperaemia, RNFL oedema, and telangiectatic vessels.
What is the prognosis for Leber’s Hereditary Optic Neuropathy?
Poor. Severe, bilateral, permanent vision loss (6/60 or worse). No effective treatment. Low vision aids and genetic counselling recommended.
⚡ What is Optic Atrophy?
Axonal degeneration of optic nerve fibres between retina and lateral geniculate body causing pale optic disc and vision loss.
What are the types of Optic Atrophy?
Primary (no prior swelling), Secondary (following swelling), and Consecutive/Ascending (due to retinal disease).
List causes of Primary Optic Atrophy.
Inherited (hereditary optic neuropathies) or acquired (MS, retrobulbar neuritis, compressive lesions, trauma, toxic/nutritional neuropathy).
