X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females.
Three unrelated families (two Jewish and one Druze) are reported, in which a total of eight males exhibited the ophthalmological findings of primary retinal dysplasia. Since our affects male members only have eye findings, this disorder is readily differentiated from Norrie's disease in which other parts of the nervous system are involved. 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 varying types of retinal fold changes. In addition, most of these same presumed female carriers also demonstrated changes in the stroma of their irides, resulting in a gray to grayish-blue color. At present, it is not possible to state definitely whether or not this latter observation is a feature of the carrier state.
D000328:Adult; D002648:Child; 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; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D012730:Sex Chromosomes; D014960:X Chromosome