Leber's amaurosis with nephronophthisis and congenital hepatic fibrosis.
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.
Singh
Varinder
V
Department of Pediatrics, Lady Hardinge Medical College, New Delhi. v.singh@ndf.vsnl.net.in
Bhattacharjee
Sabyasachi
S
Singh
Kirti
K
Narula
M K
MK
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*