The heterozygote female in X-linked recessive primary retinal dysplasia.
Three families with primary retinal dysplasia are reported. The ophthalmoscopical findings vary from congenital retinal folds to highly disorganized tumor-like protrusions in the vitreous cavity. The family pedigrees along with the clinical features support an X-linked recessive mode of transmission for this condition. Female carriers for this gene may show retinal fold changes. In addition some of these presumed female carriers also demonstrated changes in the stroma of their irides resulting in a gray to grayish-blue color.
D000328:Adult; D002675:Child, Preschool; D003241:Consanguinity; D005127:Eye Color; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome