MeSH Browser

MeSH Supplementary: Coloboma of optic nerve
Unique ID: C535970
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535970
Entry Term(s): Congenital coloboma of the optic nerve; Optic nerve coloboma; Optic nerve head pits, bilateral congenital
Registry Number: 0
Heading Mapped to: *Coloboma; Optic Nerve / *abnormalities
Frequency: 49
Note: A coloboma similar to autosomal dominant ocular coloboma (OMIM: 120200) both eyes are usually affected and it is frequently associated with detachment of the MACULA LUTEA and RETINA. Mutations in the PAX6 gene have been identified in some cases. OMIM: 120430
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Coloboma of optic nerve MeSH Supplementary Concept Data 2023