Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

PURPOSE: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrop...

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Detalhes bibliográficos
Principais autores: Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Manir
Formato: Artigo
Idioma:Inglês
Publicado em: Cornea 2013
Assuntos:
Clinical Science
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4195577/
https://ncbi.nlm.nih.gov/pubmed/24351571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ICO.0000000000000041
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