Central areolar choroidal dystrophy in a family with pseudoachondroplastic spondyloepiphyseal dysplasia.
The author reports the first association of central areolar choroidal dystrophy in three brothers with pseudoachondroplastic spondyloepiphyseal dysplasia. Both central areolar choroidal dystrophy and pseudoachondroplastic spondyloepiphyseal dysplasia represent heterogeneous disorders with autosomal dominant transmission. It is hypothesized that this association is a result of a new subtype involving both the skeletal system and the eye.
Mansour
A M
AM
Department of Ophthalmology, University of Texas Medical Branch, Galveston 77550.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002829:Choroid; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013122:Spinal Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D014603:Uveal Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology