Familial Renal-Retinal Dystrophy
- 1 March 1973
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 125 (3) , 442-447
- https://doi.org/10.1001/archpedi.1973.04160030094021
Abstract
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.Keywords
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