Carrier detection in tapetoretinal degeneration in association with medullary cystic disease.
We conducted electro-oculographic and electroretinographic studies of six families with the autosomal recessively inherited Senior-Loken syndrome (juvenile familial nephronophthisis or medullary cystic disease in association with tapetoretinal degeneration). Sixteen patients had both renal and ocular involvement. In two families consanguinity between the patients was established. Routine ophthalmologic examination of relatives without renal involvement showed no retinal abnormalities, but electro-oculographic and electroretinographic studies were helpful in detecting 16 asymptomatic family members who carried the gene.
D000293:Adolescent; D003241:Consanguinity; D004585:Electrooculography; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome