amaurosis-hypertrichosis syndrome
Findings
No curated finding names amaurosis-hypertrichosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008766), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Coarse hairHPOHP:0002208
- Very frequent (80% to 99% of cases)
- Cone/cone-rod dystrophyHPOHP:0000548
- Very frequent (80% to 99% of cases)
- High hypermetropiaHPOHP:0008499
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Photophobia
Where it sits
- A kind of