Document Detail


Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case.
MedLine Citation:
PMID:  655918     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This report is a retrospective study of 33 patients seen over a 16-year period in whom a diagnosis of Leber's congenital amaurosis was made. The findings of an autosomal recessive heredity in 33%, connatal blindness (visual acuity less than 20/200) in 95%m nystagmus in 75%, and a markedly abnormal electroretinogram in 100% is in agreement with the findings of previously published large series. The difficulty in making the correct diagnosis initially was related to the wide variety of fundus findings and a high association (30%) of central nervous system disease. In the differential diagnosis of connatal blindness, only Leber's congenital amaurosis exhibits an absent or markedly diminished response on electroretinogram. The histopathologic findings in a 6-month-old infant with this disorder are compared with those of previously published reports.
Authors:
K G Noble; R E Carr
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of ophthalmology     Volume:  96     ISSN:  0003-9950     ISO Abbreviation:  Arch. Ophthalmol.     Publication Date:  1978 May 
Date Detail:
Created Date:  1978-07-15     Completed Date:  1978-07-15     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7706534     Medline TA:  Arch Ophthalmol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  818-21     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Atrophy
Blindness / congenital*,  diagnosis
Diagnosis, Differential
Humans
Infant
Male
Photoreceptor Cells / pathology
Retina / pathology
Retinal Diseases / congenital*,  diagnosis
Retrospective Studies
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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