Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis

Jalili (1989) studied 2 female cousins, both the products of consanguineous marriages, affected with severe retinal dystrophy characterized by visual impairment from birth and profound photophobia in the absence of night blindness. The ophthalmologic characteristics suggested a cone-rod type of congenital amaurosis. Associated in both girls was trichomegaly (190330), bushy eyebrows with synophrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older, postpubertal cousin). The patients were not mentally retarded; see 275400.