Corneal Decompensation in Recessive Cornea Plana

Autor:	Arif O, Khan, Mohammed A, Aldahmesh, Saeed, Al-Gehedan, Brian F, Meyer, Brain F, Meyer, Fowzan S, Alkuraya
Rok vydání:	2009
Předmět:	Male medicine.medical_specialty Stromal cell genetic structures Corneal Decompensation Ophthalmic examination Genes Recessive Middle Aged Biology eye diseases Corneal Diseases Ophthalmology Mutation Pediatrics Perinatology and Child Health medicine Humans Female Proteoglycans sense organs Thickening Cornea plana Child Genetics (clinical) Retrospective Studies
Zdroj:	Ophthalmic Genetics. 30:142-145
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810902937084
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b0944839047731a702c4edcc5a4115b https://doi.org/10.1080/13816810902937084 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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