Refractive Error in Inherited Retinal Disease.

Autor: Yassin SH; Shiley Eye Institute, University of California, La Jolla, CA, USA., Wagner NE; Shiley Eye Institute, University of California, La Jolla, CA, USA., Khuu T; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Schmidt R; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Igelman AD; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Marra M; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Schwartz H; Retina Foundation, Dallas, Texas, USA; The Vision Center, Department of Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA., Walker E; Shiley Eye Institute, University of California, La Jolla, CA, USA., Nagiel A; The Vision Center, Department of Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA; Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Everett LA; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA; Retina Foundation, Dallas, Texas, USA., Borooah S; Shiley Eye Institute, University of California, La Jolla, CA, USA. Electronic address: sborooah@health.ucsd.edu.
Jazyk: angličtina
Zdroj: American journal of ophthalmology [Am J Ophthalmol] 2024 Sep 18. Date of Electronic Publication: 2024 Sep 18.
DOI: 10.1016/j.ajo.2024.09.011
Abstrakt: Purpose: Inherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (RE) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in the better management of patients with IRD and provide insights into understanding genetic associations with RE. The aim of this study was to investigate the patterns of RE in patients with IRD from three academic ophthalmology referral centers.
Design: Retrospective tri-center cohort study.
Methods: Chart review of clinically and molecularly confirmed IRD cases seen at the University of California San Diego, Oregon Health & Science University, and Children's Hospital Los Angeles. Data retrieved included: demographics, disease phenotype, genotype, best-corrected visual acuity, objective, and/or subjective refraction.
Results: A total of 1942 patient notes were reviewed, of these 634 patients (1255 eyes) had refractive data. For genes associated with myopia, NYX (n=14 [1%]) was associated with the highest SER of myopia (mean -9.26 diopters (D) [95% CI -11.867, -6.651], P<0.001) followed by IMPG2 (n=16 [1.1%]) (mean -4.062 D [95% CI -6.254, -1.871], P=0.002), then RPGR (n=104 [7.2%]) (mean -2.664 D [95% CI [-3.618, -1.710], P=0.016) and for genes associated with hyperopia, BEST1 (n= 38 [2.6%]) had the highest SER for hyperopia (mean 2.996 D [95% CI 1.830, 4.162], P<0.001) followed by RS1 (n=26 [1.8%]) (mean 2.562 D [95% CI 1.454, 3.671], P<0.001), then CNGA3 (n=28 [1.9%]) (mean 0.603 D [(95% CI -0.48, 1.686]), P=0.009). Overall patients with IRD were significantly more myopic than age matched population controls. (n=eyes) CONCLUSION: By combining genetic testing with refraction data from a large cohort of patients, we identify IRD genes associated with myopia and hyperopia. However, we find that the pattern of ametropia varies widely not only by gene but also within a gene cohort. The genes identified to be associated with RE are candidates for further in-depth investigation to understand their functional role in RE.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
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