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.
MONDO:0019118
inherited retinal dystrophy
is_a
amaurosis congenita cone-rod type with congenital hypertrichosis
related