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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
1998-12-23
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pubmed:abstractText |
Nanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as indicated by short axial length, high hyperopia (severe farsightedness), high lens/eye volume ratio, and a high incidence of angle-closure glaucoma. We performed clinical and genetic evaluations of members of a large family in which nanophthalmos is transmitted in an autosomal dominant manner. Ocular examinations of 22 affected family members revealed high hyperopia (range +7.25-+13.00 diopters; mean +9.88 diopters) and short axial length (range 17.55-19.28 mm; mean 18.13 mm). Twelve affected family members had angle-closure glaucoma or occludable anterior-chamber angles. Linkage analysis of a genome scan demonstrated highly significant evidence that nanophthalmos in this family is the result of a defect in a previously unidentified locus (NNO1) on chromosome 11. The gene was localized to a 14.7-cM interval between D11S905 and D11S987, with a maximum LOD score of 5. 92 at a recombination fraction of .00 for marker D11S903 and a multipoint maximum LOD score of 6.31 for marker D11S1313. NNO1 is the first human locus associated with nanophthalmos or with an angle-closure glaucoma phenotype, and the identification of the NNO1 locus is the first step toward the cloning of the gene. A cloned copy of the gene will enable examination of the relationship, if any, between nanophthalmos and less severe forms of hyperopia and between nanophthalmos and other conditions in which angle-closure glaucoma is a feature.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-114057,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-1225823,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-1302030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-13258560,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-13300470,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-1505766,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-1985459,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-2208471,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-2696577,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-2818284,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-3061869,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-3171103,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-3344125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-3431465,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-3827713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-4462250,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-593658,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-7177565,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-7668281,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-8630490,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-9449459,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9792868-9683145
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0002-9297
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pubmed:author |
pubmed-author:BoehnkeMM,
pubmed-author:CockrellD ADA,
pubmed-author:DownsC ACA,
pubmed-author:FornésAA,
pubmed-author:MickAA,
pubmed-author:OthmanM IMI,
pubmed-author:RichardsJ EJE,
pubmed-author:SkutaG LGL,
pubmed-author:StringhamH MHM,
pubmed-author:SullivanS ASA,
pubmed-author:VollrathDD
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pubmed:issnType |
Print
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1411-8
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9792868-Chromosome Mapping,
pubmed-meshheading:9792868-Chromosomes, Human, Pair 11,
pubmed-meshheading:9792868-Eye Abnormalities,
pubmed-meshheading:9792868-Female,
pubmed-meshheading:9792868-Genes, Dominant,
pubmed-meshheading:9792868-Genetic Markers,
pubmed-meshheading:9792868-Genotype,
pubmed-meshheading:9792868-Glaucoma, Angle-Closure,
pubmed-meshheading:9792868-Humans,
pubmed-meshheading:9792868-Hyperopia,
pubmed-meshheading:9792868-Lod Score,
pubmed-meshheading:9792868-Male,
pubmed-meshheading:9792868-Pedigree,
pubmed-meshheading:9792868-Spouses
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pubmed:year |
1998
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pubmed:articleTitle |
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
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pubmed:affiliation |
Department of Opthalmology, University of Michigan, Ann Arbor, MI, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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