UNUSUAL ASSOCIATION OF JUVENILE MACULAR DYSTROPHY WITH CONGENITAL HYPOTRICHOSIS - OCCURRENCE IN 2 SIBLINGS SUGGESTING AUTOSOMAL RECESSIVE INHERITANCE

Authors
SOUIED E AMALRIC P CHAUVET ML CHEVALLIER C LEHOANG P MUNNICH A KAPLAN J
Citation
E. Souied et al., UNUSUAL ASSOCIATION OF JUVENILE MACULAR DYSTROPHY WITH CONGENITAL HYPOTRICHOSIS - OCCURRENCE IN 2 SIBLINGS SUGGESTING AUTOSOMAL RECESSIVE INHERITANCE, Ophthalmic genetics, 16(1), 1995, pp. 11-15
Citations number
NO
Journal title
Ophthalmic genetics → ACNP
ISSN journal
13816810
Volume
16
Issue
1
Year of publication
1995
Pages
11 - 15
Database
ISI
SICI code
1381-6810(1995)16:1<11:UAOJMD>2.0.ZU;2-P
Abstract
A familial association between juvenile macular dystrophy and congenit al hypotrichosis is described in two siblings aged 25 and 23 years. We put forward arguments for locating the retinal alteration at the leve l of the retinal pigment epithelium and suggest that the hair disorder could be a Marie-Unna type hypotrichosis. This association is transmi tted as an autosomal recessive condition.