Leber's congenital amaurosis

This article is best viewed in a PDF Format.

View PDF

DESCRIPTION

The word 'amaurosis' refers to partial or complete vision impairment, particularly when there is no obvious cause. Leber's congenital amaurosis is a retinal dystrophic disease that is inherited as an autosomal recessive trait.

It is characterised by a bilateral severe vision loss, if not blindness, at birth or shortly thereafter, and should be suspected if an infant presents with vision loss, nystagmus and poor pupil reflexes in the presence of normal or near normal fundi. The few cases that retain reasonable vision in their early years tend to decline with time so that in adulthood they are legally blind. A variety of fundus changes may lead to a difficulty in diagnosis (see below).