日本人網膜色素変性症におけるEYS遺伝子変異とその臨床像

Clinical features of retinitis pigmentosa with EYS gene mutationin the Japanese

要約　目的：EYS遺伝子変異が同定された網膜色素変性症（retinitis pigmentosa：以下，RP）患者の臨床像の報告。対象と方法：当科受診140例のRP患者のうち変異が同定された23例（平均年齢52.5歳）を対象に，視力，視野，夜盲の自覚年齢，RP診断時年齢，白内障診断およびに手術時年齢，網膜電図，眼底所見の項目について検討した。結果：夜盲の自覚年齢は20歳代に多く，診断時年齢は平均39.0歳，13例に白内障手術の既往があり，臨床像は定型例にみられる遅発型RP像を呈した。結論：EYS遺伝子変異は定型RP像を呈する可能性があり，併発白内障にも留意する必要がある。

Abstract.　Purpose：To report clinical features of retinitis pigmentosa with eyes shut homolog（EYS）mutation in the Japanese. Cases and Methods：Out of 140 patients with autosomal recessive retinitis pigmentosa, 23 cases were identified with probable EYS mutation by genetic tests. The series comprised 9 males and 14 females. The age averaged 53 years. They were evaluated regarding visual acuity, visual field, age of onset of night blindness, age diagnosed with retinitis pigmentosa, and age of cataract surgery. Results：The majority of patients noticed night blindness during third decade of life. Retinitis pigmentosa was diagnosed at the age averaging 39 years. Thirteen patients had received cataract surgery. The fundus showed typical features of late-onset retinitis pigmentosa. Conclusion：Patients with EYS mutation often manifest typical funduscopic features of retinitis pigmentosa and complicated cataract.