Two sisters have a rare genetic disorder characterized by impaired vision and progressive renal failure. The eye lesion affects the retina. The kidney component both clinically and histologically closely resembles nephronophthisis-medullary cystic disease.
Examples of other families with this entity have been found in the literature. Based on these reports and our two patients, a composite picture of the syndrome and its genetic pattern is presented.
Senior B. Familial Renal-Retinal Dystrophy. Am J Dis Child. 1973;125(3):442–447. doi:10.1001/archpedi.1973.04160030094021