| pubmed-article:655918 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:655918 | lifeskim:mentions | umls-concept:C0339527 | lld:lifeskim |
| pubmed-article:655918 | lifeskim:mentions | umls-concept:C0035363 | lld:lifeskim |
| pubmed-article:655918 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
| pubmed-article:655918 | lifeskim:mentions | umls-concept:C0868928 | lld:lifeskim |
| pubmed-article:655918 | lifeskim:mentions | umls-concept:C1533148 | lld:lifeskim |
| pubmed-article:655918 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:655918 | pubmed:dateCreated | 1978-7-15 | lld:pubmed |
| pubmed-article:655918 | 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. | lld:pubmed |
| pubmed-article:655918 | pubmed:language | eng | lld:pubmed |
| pubmed-article:655918 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:655918 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:655918 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:655918 | pubmed:month | May | lld:pubmed |
| pubmed-article:655918 | pubmed:issn | 0003-9950 | lld:pubmed |
| pubmed-article:655918 | pubmed:author | pubmed-author:CarrR ERE | lld:pubmed |
| pubmed-article:655918 | pubmed:author | pubmed-author:NobleK GKG | lld:pubmed |
| pubmed-article:655918 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:655918 | pubmed:volume | 96 | lld:pubmed |
| pubmed-article:655918 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:655918 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:655918 | pubmed:pagination | 818-21 | lld:pubmed |
| pubmed-article:655918 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-H... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-I... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-R... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-B... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-D... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-M... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-A... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-R... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-S... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-R... | lld:pubmed |
| pubmed-article:655918 | pubmed:meshHeading | pubmed-meshheading:655918-P... | lld:pubmed |
| pubmed-article:655918 | pubmed:year | 1978 | lld:pubmed |
| pubmed-article:655918 | pubmed:articleTitle | Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case. | lld:pubmed |
| pubmed-article:655918 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:655918 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:655918 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:655918 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:655918 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:655918 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:655918 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:655918 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:655918 | lld:pubmed |
