Clinical variability in vitreoretinal degeneration.
Three families with a wide range of vitreoretinal degeneration, median cleft face syndrome and skeletal anomalies are described. Their autosomal dominant transmission and phenotypic spectrum are presented. In view of the similarity between these patients and the clinical overlap existing between them, it is assumed that they are all the same entity forming parts of a continuum. As the pleiotropic gene has such different and varying expressivity with regard to the organ system involved, it is presumed that the dominance in this complex disorder is irregular.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005128:Eye Diseases / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome; D014822:Vitreous Body