Amaurosis-Hypertrichosis Syndrome
| Classification according to ICD-10 | |
|---|---|
| H35.5 | Hereditary retinal dystrophy |
| ICD-10 online (WHO version 2019) | |
The Amaurosis hypertrichosis syndrome is a very rare congenital disease with a combination of retinal dystrophy and hypertrichosis .
The syndrome is not to be confused with Jalili syndrome , a combination of amelogenesis imperfecta and cone-rod dystrophy.
The first description comes from the year 1988 by the ophthalmologist IK Jalili.
distribution
The frequency is given as less than 1 in 1,000,000, so far two affected people have been described in one family. Inheritance is autosomal - recessive .
root cause
The cause is not known.
Clinical manifestations
Clinical criteria are:
- Manifestation in the newborn age
- severe retinal dystrophy with visual disturbances and photophobia , no night blindness
- Hair disorders such as trichomegaly , bushy, coalesced eyebrows with synophris and excessive hair on face and body
Individual evidence
- ↑ a b c Amaurosis-Hypertrichosis Syndrome. In: Orphanet (Rare Disease Database).
- ↑ IK Jalili: Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. In: Journal of Medical Genetics . Volume 26, Number 8, August 1989, pp. 504-510, doi: 10.1136 / jmg.26.8.504 , PMID 2769722 , PMC 1015672 (free full text).
- ↑ AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS. In: Online Mendelian Inheritance in Man . (English)
