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optic nerve coloboma
MIM.120430
Wednesday 29 June 2005
Synopsis
bilateral
retinal detachment (detachment of the macula)
enlargement of the physiologic cup
huge cavities at the site of the disc
variable amount of glial tissue in the coloboma
no male-to-male transmission was observed
autosomal dominant
Etiology
PAX6 germline mutations (MIM.607108)
See also
ocular coloboma
- uveoretinal coloboma
- coloboma of iris
- coloboma of choroid
- coloboma of retina
References
Azuma, N.; Yamaguchi, Y.; Handa, H.; Tadokoro, K.; Asaka, A.; Kawase, E.; Yamada, M. : Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am. J. Hum. Genet. 72: 1565-1570, 2003. PubMed ID : 12721955
