A Homozygous Missense Mutation in NEUROD1 Is Associated With Nonsyndromic Autosomal Recessive Retinitis Pigmentosa [Genetics]

Conclusions.
We identified a potential novel genotype–phenotype correlation between NEUROD1 and nonsyndromic ARRP. Our study supports the idea that NEUROD1 is important for maintenance of the retina function and partial loss-of-function mutation in NEUROD1 is likely a rare cause of nonsyndromic ARRP.

Source: Investigative Ophthalmology - January 9, 2015 Category: Opthalmology Authors: Wang, F., Li, H., Xu, M., Li, H., Zhao, L., Yang, L., Zaneveld, J. E., Wang, K., Li, Y., Sui, R., Chen, R. Tags: Genetics Source Type: research