A genetic study of three rare retinal disorders: dystrophia retinae dysacusis syndrome, x-chromosomal retinoschisis and grouped pigments of the retina.
1) Dystrophia retinae dysacusis syndrome: Two different recessively inherited forms have been observed among 133 cases diagnosed in Finland--a country with a population of 4.6 million. 2) X-chromosomal retinoschisis: A series of 179 ophthalmoscopically verified familial cases is reported. The loci for Xg and retinoschisis are within measurable distance on the X-chromosome, but deutan dyschromatopsia is far from these. 3) Grouped pigments of the retina: No evidence of heredity was detected among 23 cases on the basis of the last four to six generations. The sex ratio is 15:8.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D005260:Female; D005387:Finland; D005684:Gait; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D008548:Melanosis / Q000151:congenital / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D012164:Retinal Diseases / Q000151:congenital / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D012730:Sex Chromosomes; D012737:Sex Factors; D013577:Syndrome