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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1993-6-21
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pubmed:abstractText |
Seventy four males affected by X linked ocular albinism (XLOA) from 19 pedigrees were examined to assess phenotypic variation and visual prognosis. Nystagmus was present in all cases except one. Best visual acuity ranged from 6/9 to 6/60; 79.7% could see 6/36 or better; most could read N5. Marked iris translucency and foveal hypoplasia were present in all cases. Posterior embryotoxon was present in 30% and dysplastic optic discs were often seen. Pigmentation of the posterior pole was associated with better visual acuity. XLOA is under-diagnosed: almost 20% of cases had been previously diagnosed as having congenital nystagmus until reviewed in this study.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-1247409,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-13373175,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-1891830,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-1951438,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-2063919,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-2322509,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/8494858-3254652,
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0007-1161
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
77
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
222-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:8494858-Adolescent,
pubmed-meshheading:8494858-Adult,
pubmed-meshheading:8494858-Aged,
pubmed-meshheading:8494858-Albinism, Ocular,
pubmed-meshheading:8494858-Child,
pubmed-meshheading:8494858-Child, Preschool,
pubmed-meshheading:8494858-Eye Color,
pubmed-meshheading:8494858-Genetic Linkage,
pubmed-meshheading:8494858-Humans,
pubmed-meshheading:8494858-Infant,
pubmed-meshheading:8494858-Macula Lutea,
pubmed-meshheading:8494858-Male,
pubmed-meshheading:8494858-Middle Aged,
pubmed-meshheading:8494858-Nystagmus, Pathologic,
pubmed-meshheading:8494858-Optic Disk,
pubmed-meshheading:8494858-Prognosis,
pubmed-meshheading:8494858-Refractive Errors,
pubmed-meshheading:8494858-Visual Acuity,
pubmed-meshheading:8494858-X Chromosome
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pubmed:year |
1993
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pubmed:articleTitle |
Clinical features of affected males with X linked ocular albinism.
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pubmed:affiliation |
Addenbrooke's Hospital, Cambridge Department of Ophthalmology.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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