Oculo-auricular syndrome

Definition:

Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease.

References:

[1]. Daniel F Schorderet, et al. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am J Hum Genet. 2008 May;82(5):1178-84. [Content Brief]

[2]. V Vaclavik, et al. Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. Ophthalmic Genet. 2011 Jun;32(2):114-7. [Content Brief]

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