Hamamatsu University School of Medicine · Department of Ophthalmology · 助教

Research keywordsinherited retinal dystrophy・ocular genetics・retinitis pigmentosa・ABCA4 retinopathy・RPGRIP1 pathology・corneal dystrophy・genetic ophthalmology・retinal degeneration

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• A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.
• 構造異常は日本人患者におけるRPGRIP1関連網膜ジストロフィーの原因に深く関与している(The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients)
• The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients
• A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

• 最新のインフォマティクス解析による若年発症網膜ジストロフィの分子基盤の解明

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