Souied E, Amalric P, Chauvet M L, Chevallier C, Le Hoang P, Munnich A, Kaplan J
Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
Ophthalmic Genet. 1995 Mar;16(1):11-5. doi: 10.3109/13816819509057848.
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.
在两名分别为25岁和23岁的兄弟姐妹中，描述了青少年黄斑营养不良与先天性毛发稀少之间的家族关联。我们提出了将视网膜改变定位在视网膜色素上皮水平的论据，并认为毛发疾病可能是玛丽-昂纳型毛发稀少症。这种关联以常染色体隐性疾病的形式遗传。
