| Corneal decompensation in recessive cornea plana. | |
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MedLine Citation:
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PMID: 19941419 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To report corneal decompensation in 3 patients with recessive cornea plana. METHODS: Retrospective case series. RESULTS: An adult and two children (all unrelated) with clinical recessive cornea plana had gradual decrease in vision. Ophthalmic examination revealed corneal decompensation (stromal thickening and haze without epithelial changes) in the 3 patients. Diagnostic DNA sequencing revealed homozygosity for a novel splice (c.995-2A>G) in the adult and 2 previously reported KERA mutations in the 2 children (c.1033delC[p.C343AFsX] and c.945C > T[p.R313X]). CONCLUSIONS: The phenotype of recessive cornea plana can rarely include corneal decompensation. There are likely modifying factors that can lead to endothelial cell dysfunction in the setting of homozygous KERA mutation. |
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Authors:
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Arif O Khan; Mohammed A Aldahmesh; Saeed Al-Gehedan; Brian F Meyer; Brain F Meyer; Fowzan S Alkuraya |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 30 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-11-27 Completed Date: 2010-02-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 142-5 Citation Subset: IM |
Affiliation:
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Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Corneal Diseases / genetics*, pathology* Female Genes, Recessive Humans Male Middle Aged Mutation / genetics Proteoglycans / genetics Retrospective Studies |
| Chemical | |
Reg. No./Substance:
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0/KERA protein, human; 0/Proteoglycans |
| Comments/Corrections | |
Erratum In:
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Ophthalmic Genet. 2009 Dec;30(4):208 Note: Meyer, Brain F [corrected to Meyer, Brian F] |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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