PHOTOAVERSION IN LEBERS CONGENITAL AMAUROSIS

Photoaversion is a prominent symptom of a number of infantile genetic ocular disorders such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been w idely recognized as a clinical feature of Leber's congenital amaurosis . We present two patients who were diagnosed clinically with achromato psia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segmen t abnormalities. The photopic and scotopic responses of the electroret inogram (ERG) were nonrecordable in both patients indicating involveme nt of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent cli nical feature in some patients with Leber's congenital amaurosis. The ERG clinches the diagnosis. These patients may constitute a distinct g enetic subtype of the disease and molecular genetic studies will help resolve this issue.