Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Article
en En
| MEDLINE
| ID: mdl-31653660
ABSTRACT
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, MYOC Here, we report the identification of a novel MYOC variant, c.1153G>A, in a 24-yr-old female patient with a personal and family history of juvenile/early-onset POAG. Further genetic testing within her family demonstrated that this variant segregates with the POAG phenotype in an autosomal dominant pattern. Identification of this MYOC variant in multiple affected relatives provides evidence for its pathogenicity, supporting previous findings linking MYOC mutations, in particular in the third exon's olfactomedin domain, to juvenile-onset POAG. This case also emphasizes the potential value of genetic testing in families with histories of eye disorders.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Glicoproteínas
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Glaucoma de Ángulo Abierto
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Proteínas del Citoesqueleto
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Proteínas del Ojo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos