Leber's amaurosis with nephronophthisis and congenital hepatic fibrosis.

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2004-10-04
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Abstract
We describe a case of Leber's amaurosis in a one-year-old girl with unusual presentations. She presented with small clue like tachypnea and nystagmoid novement of eyeswhich when pursued revealed involvement like hepatic, renal and retina.
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Singh V, Bhattacharjee S, Singh K, Narula MK. Leber's amaurosis with nephronophthisis and congenital hepatic fibrosis. Indian Pediatrics. 2004 Oct; 41(10): 1053-6