Specific genes associated with inherited retinal dystrophies (IRDs) also influence refractive errors (RE), such as myopia and hyperopia, according to a study that found these genetic patterns vary widely, suggesting that genetic testing combined with refraction data can help better understand and manage vision impairment in IRD patients.
Data from 1,255 eyes of 634 patients with clinically and genetically confirmed IRDs were analyzed. Patients with IRDs were found to be generally more myopic than the general population
- Prevalence of Myopia: Patients with IRDs were generally found to be more myopic than the general population.
- Key Genes for Myopia:
- NYX: Most strongly associated with myopia (mean spherical equivalent refraction [SER] of -9.26 diopters [D]).
- IMPG2 and RPGR: Also linked to myopia.
- Key Genes for Hyperopia:
- BEST1: Showed the highest SER for hyperopia.
- RS1 and CNGA3: Followed in association with hyperopia.
These insights could lead to improved strategies for managing vision impairment in individuals with IRDs.
Reference
Yassin SH, Wagner NE, Khuu T, et al. Refractive Error in Inherited Retinal Disease. Am J Ophthalmol. 2024;S0002-9394(24)00431-8. doi: 10.1016/j.ajo.2024.09.011. Epub ahead of print. PMID: 39303928.
Source: Ophthalmology 360