Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance

Conclusion
This study reveals ARR3 as the most frequently implicated gene for Mendelian eoHM. Truncations and highly scored missense variants in ARR3 are pathogenic. Myopia due to ARR3 mutations is transmitted in X-linked female-limited inheritance, manifests with mild cone impairment and slowly progresses to pathologic myopia. Identification of the most common cause for Mendelian eoHM provides a valuable starting point into the molecular mechanism of myopia.

Source: British Journal of Ophthalmology - September 21, 2023 Category: Opthalmology Authors: Wang, Y., Xiao, X., Li, X., Yi, Z., Jiang, Y., Zhang, F., Zhou, L., Li, S., Jia, X., Sun, W., Wang, P., Zhang, Q. Tags: Open access Original articles - Clinical science Source Type: research