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.
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Boris Senior (1973) studied this question.
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