Walsh & Hoyt: Congenital Recessive Optic Atrophy

This form of optic atrophy is present at birth or develops at an early age and is usually discovered before the patient is 3 or 4 years old. It was described by Waardenburg and others as having an autosomal-recessive transmission. According to Kjer, there is often consanguinity between parents. The clinical picture is that of visual acuity so severely affected that the patient may be completely blind with searching nystagmus. The visual fields, when they can be tested, show variable constriction, and there are often paracentral scotomas. The optic discs are completely atrophic and often deeply cupped.