Mutations in NYX Linked to High Myopia Without Night Blindness
Author Information
Author(s): Zhang Qingjiong, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Yang Zhikuan, Huang Shizhou, Caruso Rafael C., Guan Tianqin, Sergeev Yuri, Guo Xiangming, Hejtmancik J. Fielding
Primary Institution: Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
Hypothesis
Mutations in the NYX gene might cause high myopia without congenital stationary night blindness.
Conclusion
Mutations in NYX may cause high myopia without CSNB.
Supporting Evidence
- Two unrelated male individuals with high myopia were found to have novel mutations in NYX.
- The mutations were located in distinct regions from those known to cause night blindness.
- Both mutations were not detected in 232 control individuals.
Takeaway
Some people can have severe nearsightedness without having trouble seeing at night because of changes in a specific gene called NYX.
Methodology
The genomic sequence of NYX in 52 male probands with high myopia was analyzed through direct DNA sequencing.
Limitations
The study only included male probands and did not assess all family members for potential mutations.
Participant Demographics
52 male probands with high myopia from Southern China.
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