Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution.Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, <i>EYS</i> and <i>USH2A</i>, were further assessed through routine ophthalmic examinations.Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, <i>EYS</i> and <i>USH2A</i> mutations were each found in 5 patients (7.9%); <i>RP1</i> mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for <i>EYS</i> mutations and 41.8 years for <i>USH2A</i> mutations. The average best-corrected visual acuities were logMAR 0.08 for <i>EYS</i> mutations and logMAR 0.51 for <i>USH2A</i> mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In <i>USH2A</i> mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with <i>EYS</i> mutations. Visual field tests indicated a reduction within the central 10° in 40% of <i>EYS</i> mutations and 60% of <i>USH2A</i> mutations. Electroretinography showed non-detectable responses in 2 individuals with <i>EYS</i> mutations and 4 individuals with <i>USH2A</i> mutations (40% and 80%, respectively).Conclusions: <i>EYS</i> and <i>USH2A</i> mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. <i>EYS</i> mutations tended to preserve retinal function and central foveal structure better than <i>USH2A</i> mutations.
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