amaurosis-hypertrichosis syndrome https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis https://www.malacards.org/card/amaurosis_congenita_cone_rod_type_with_congenital_hypertrichosis_2 https://www.malacards.org/card/amaurosis_hypertrichosis_syndrome Orphanet:1021 MESH:C536604 MONDO:0008766 SCTID:720983002 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. GARD:0000637 OMIM:204110 amaurosis congenita cone-rod type with congenital hypertrichosis UMLS:C1857588 MEDGEN:341805 inherited retinal dystrophy