Optic disc anomalies with retinal and/or macular dystrophy

Definition:

Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

References:

[1]. K O Yariz, et al. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. Clin Genet. 2015 Feb;87(2):192-5. [Content Brief]

[2]. M A Aldahmesh, et al. Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin Genet. 2013 Aug;84(2):198-9. [Content Brief]

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