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Ophthalmology Neuro Ophthalmology 7a6d6196

All of the following statements about Leber's Hereditary Optic Neuropathy (LHON) are true except:

A
Mutation in mitochondrial DNA,MT-ND4 gene
B
Fluorescein angiography shows leakage from the microangiopathic vessels
C
Usually affects males between the ages of 15 -35 years
D
Chalky white optic disc
High-Yield Explanation
Leber hereditary optic neuropathy (LHON) Rare ganglion cell degeneration. Papillomacular bundle is paicularly affected. Caused by maternally inherited mitochondrial DNA point mutations, MT-ND4 gene. Affects males between the ages of 15 -35 years, although in atypical cases the condition may affect females and present at any age between 10 -60 years. Diagnosis- Bilateral optic neuropathy, irrespective of age. Signs are:- Preceded by swelling of the optic nerve head (Hyperemic disc) - Chalky white optic disc Dilated capillaries on the disc surface (circumpapillary telangiectasia) these may extend onto adjacent retina (telangiectatic microangiopathy). Swelling of the peripapillary nerve fibre layer (Pseudo-oedema) FA shows no leakage from the disc or microangiopathic vessels.

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