Clinical Characteristics of EYS -Associated Retinal Dystrophy in 295 Japanese Patients
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Objective
To describe the clinical characteristics of Inherited retinal dystrophy (IRD) caused by EYS ( EYS –RD), the most common causative gene of this disease in the Japanese population.
Design
A multicenter retrospective study
Participants
295 patients (143 men and 152 women) with EYS –RD registered in the Japan Retinitis Pigmentosa Registry Project at eight Japanese facilities.
Methods
We evaluated age at the first visit, duration of observation, age of onset, first symptoms, family history, history of consanguineous marriage, disease type, macular complications, history of cataract surgery, logarithm of the minimum angle of resolution best-corrected visual acuity (logMAR BCVA), and its progression. The mean ± standard deviation or the proportion of each parameter was calculated and compared across different variant levels.
Main Outcome Measures
Clinical parameters including age of onset, BCVA, and progression of BCVA.
Results
The mean age at the first visit was 45.5 ± 14.9 years, and the mean duration of observation was 7.7 ± 6.2 years. The mean age at disease onset was 25.5 ± 14.7 years. The first symptoms of EYS –RD included night blindness (78.5%), visual field impairment (9.6%), and loss of visual acuity (8.0%). Family history and consanguineous marriages accounted for 29.7% and 9.3% of the patients, respectively. Rod-cone dystrophy and cone-rod dystrophy accounted for 96.3% and 2.4% of patients, respectively. The mean logMAR BCVA was 0.33 ± 0.56, and the mean progression was 0.03 ± 0.07 per year. In variant-based analyses, three East Asian–specific pathogenic variants (S1653fs, Y2935X, and G843E) caused 69.7% of Japanese EYS –RD patients. In cases with homozygous pathogenic variants, the mean age at onset was 17.9, 27.5, and 26.2 years, and the mean progression of logMAR BCVA was 0.05 ± 0.09, 0.04 ± 0.06, and 0.04 ± 0.05 per year for S1653fs (n = 31), Y2935X (n = 13), and G843E (n = 24), respectively.
Conclusions
We described the clinical characteristics of Japanese patients with EYS –RD. The clinical differences among major East Asian–specific pathogenic variants indicate the utility of genetic testing in personalized medicine for IRD patients tailored to population characteristics.
