Amaurosis-hypertrichosis syndrome
ORPHA:1021· ICD-10 H35.5
Definition
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal