Amaurosis-hypertrichosis syndrome

Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.

Also known as: amaurosis congenita cone-rod type with congenital hypertrichosis, amaurosis congenita, cone-rod type, with congenital hypertrichosis

25 clinical trials for this condition and its sub-types, 0 tagged with Amaurosis-hypertrichosis syndrome itself.