Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.

Abstract

A familial association between juvenile macular dystrophy and congenital hypotrichosis is described in two siblings aged 25 and 23 years. We put forward arguments for locating the retinal alteration at the level of the retinal pigment epithelium and suggest that the hair disorder could be a Marie-Unna type hypotrichosis. This association is transmitted as an autosomal recessive condition.

• Authors: E Souied, P Amalric, M L Chauvet, C Chevallier, P Le Hoang, A Munnich, J Kaplan
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 16 Issue 1 Pg. 11-5 (Mar 1995) ISSN: 1381-6810 [Print] England
• PMID: 7648037 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Female
• Fluorescein Angiography
• Fundus Oculi
• Hair (abnormalities)
• Humans
• Hypotrichosis (congenital, genetics)
• Macular Degeneration (genetics)
• Male
• Pedigree
• Retina (pathology)