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Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa
Jui-En Lo1, Chia-Yi Cheng2, Chang-Hao Yang2,3
1School of Medicine, National Taiwan University, Taipei, Taiwan.
Translational Vision Science & Technology
|July 11, 2022
Summary
Genetic variants in the EYS gene are linked to pericentral retinitis pigmentosa (RP). Variant location near the C-terminus correlates with faster vision loss in EYS-associated autosomal recessive RP (arRP).
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Retinitis pigmentosa (RP) is a group of inherited retinal diseases causing progressive vision loss.
- Autosomal recessive RP (arRP) accounts for a significant portion of RP cases.
- The eyes shut homolog (EYS) gene is a known contributor to arRP.
Purpose of the Study:
- To investigate the genetic and clinical characteristics of EYS-associated RP.
- To identify common EYS variants and their associated phenotypes.
- To explore the relationship between variant location and disease severity.
Main Methods:
- Retrospective cross-sectional observational study.
- Analysis of 36 patients with EYS-associated arRP.
- Gene sequencing to identify variants and correlate with clinical data.
Main Results:
- Two predominant EYS variants, c.6416G>A (p.Cys2139Tyr) and c.7228+1G>A, were identified.
- Variants in the C-terminus, including laminin and EGF domains, were most frequent (81% of alleles).
- Pericentral RP was the major phenotype (60%), often with macular lesions (52%).
- Patients with two C-terminal variants showed more rapid vision decline (0.045 logMAR/year) compared to mixed N/C-terminus variants (0.001 logMAR/year).
Conclusions:
- Pericentral RP is the predominant phenotype in EYS-associated arRP.
- A significant correlation exists between the location of EYS variants and disease severity.
- Genetic and clinical features can help predict visual acuity in EYS-associated arRP patients.
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