title: Leber's amaurosis with nephronophthisis and congenital hepatic fibrosis.
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.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College, New Delhi. v.singh@ndf.vsnl.net.in
authors.forename: Varinder
authors.initials: V
authors.lastname: Singh
authors.forename: Sabyasachi
authors.initials: S
authors.lastname: Bhattacharjee
authors.forename: Kirti
authors.initials: K
authors.lastname: Singh
authors.forename: M K
authors.initials: MK
authors.lastname: Narula
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000150:complications*; D008103:Liver Cirrhosis / Q000150:complications*; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000175:diagnosis*