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March 1973

Familial Renal-Retinal Dystrophy

Author Affiliations

From the Department of Pediatrics, Tufts University School of Medicine and the Pediatric Endocrine-Metabolic Service, New England Medical Center Hospitals (Boston Floating Hospital for Infants and Children), Boston.

Am J Dis Child. 1973;125(3):442-447. doi:10.1001/archpedi.1973.04160030094021

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.