Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy [Genetics]

Conclusions.
Oculoauricular syndrome is an autosomal recessive condition that has a profound effect on the development of the external ear, anterior segment, and retina, leading to significant visual loss at an early age. This study has delineated the phenotype and confirmed HMX1 as the gene causative of OAS, enabling the description of only the second family with the condition. HMX1 is a key player in ocular development, possibly in both the pathway responsible for lens and retina development, and via the gene network integral to optic fissure closure.

Source: Investigative Ophthalmology - February 5, 2015 Category: Opthalmology Authors: Gillespie, R. L., Urquhart, J., Lovell, S. C., Biswas, S., Parry, N. R. A., Schorderet, D. F., Lloyd, I. C., Clayton-Smith, J., Black, G. C. Tags: Genetics Source Type: research