Leber's amaurosis with nephronophthisis and congenital hepatic fibrosis.
نویسندگان
چکیده
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.
منابع مشابه
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متن کاملLeber's congenital amaurosis.
rig. renpheralfundus cS. We have had occasion to see a similar case, first in 1974 when the patient, a black female with no apparent vision but otherwise well, was 6 months old. At that time dilated fundus examination under anaesthesia (EUA) was normal. Repeat EUA in 1977 at age 4 years revealed bilateral peripheral fundus lesions essentially identical to those described by Chew et al. (Figs. 1...
متن کاملHereditary renal and retinal dysplasia--the Senior-Loken syndrome.
The association of nephronophthisis (medullary cystic disease of the kidney) and tapeto-retinal degeneration was first described by Senior1 and by Loken2 in 1961. Tapeto-retinal degeneration covers several hereditary disorders character-ised by degeneration of the choroid and retina leading to blindness. We present here the case of a boy known to have Leber's amaurosis, a severe form of retinal...
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عنوان ژورنال:
- Indian pediatrics
دوره 41 10 شماره
صفحات -
تاریخ انتشار 2004