Linked Life Data

655918

Source:http://linkedlifedata.com/resource/pubmed/id/655918

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1978-7-15
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
96
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
818-21
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Case Reports