Sector retinitis pigmentosa in juvenile nephronophthisis.
In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The range of the retinal findings and their autosomal recessive transmission are discussed. Paucity of information makes it difficult to elucidate the basic genetic defect operating in this condition.
D000293:Adolescent; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000209:etiology / Q000235:genetics*