ArticleAmerican journal of human genetics1998
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 3 of them syntheses that pooled it.
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The trial behind it
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Who cites it
44 citing papers in PubMed, 3 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Cataract and glaucoma surgery in microphthalmic, nanophthalmic, and high hyperopic eyes: a systematic review and meta-analysis.Frontiers in ophthalmology · 2026Pooled it
- Pooled it
- Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.Nature genetics · 2012Pooled it
- A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.The British journal of ophthalmology · 2003Trial
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Differences and Similarities Between Primary Open Angle Glaucoma and Primary Angle-Closure Glaucoma.Eye and brain · 2024Review
- Phacoemulsification in Nanophthalmic Eye, a Way to Manage Glaucoma: Case Report.Case reports in ophthalmological medicine · 2024Article
- Commentary: Short eyes and bigger challenges - Growing evidence in the management of pediatric nanophthalmos.Indian journal of ophthalmology · 2022Article
- Comparison of clinical and biometric characteristics between nanophthalmic children and age-matched controls.Indian journal of ophthalmology · 2022Article
- Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.Genes · 2021Review
- Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Review
- Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.The application of clinical genetics · 2021Review
- The role of TRPV4 channels in ocular function and pathologies.Experimental eye research · 2020Review
- Not too long, not too short: Goldilocks principle of eye size.PLoS genetics · 2020Article
- Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.Disease models & mechanisms · 2020Article
- Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Human genetics · 2019Article
- [Glaucoma and nanophthalmos].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2019Review
- Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.PLoS genetics · 2019Article
- Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant inMolecular vision · 2019Article
- Research progress on human genes involved in the pathogenesis of glaucoma (Review).Molecular medicine reports · 2018Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.