Abstract

The ophthalmoscopic appearance of the optic disc is reviewed in relation to the pathogenesis of optic atrophy and the angioarchitecture of the optic nerve head. Colour of the optic disc alone is an unreliable criterion for the presence of optic atrophy, the clinical diagnosis of which can be made only when disc signs are accompanied by loss of visual or ocular function. In addition to ophthalmoscopic and functional examination, clinical investigation must include the evaluation of circumstantial and neurological evidence. Temporal optic atrophy, of which dominantly inherited juvenile optic atrophy is an example, usually presents great difficulty for detection because of its subtle ophthalmoscopic appearance. The manner in which comprehensive clinical examination can compensate for minimal ophthalmoscopic signs in temporal optic atrophy is illustrated by the findings in three families with dominantly inherited juvenile optic atrophy.

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