title: 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.affiliation: Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Souied
authors.forename: P
authors.initials: P
authors.lastname: Amalric
authors.forename: M L
authors.initials: ML
authors.lastname: Chauvet
authors.forename: C
authors.initials: C
authors.lastname: Chevallier
authors.forename: P
authors.initials: P
authors.lastname: Le Hoang
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012160:Retina / Q000473:pathology