硝子体手術を施行したミトコンドリア遺伝子異常を伴う増殖糖尿病網膜症の1例

Vitreous surgery for proliferative diabetic retinopathy in a case with mutation in the mitochondrial gene

要約　背景：ミトコンドリア遺伝子に異常がある糖尿病では増殖糖尿病網膜症に進行しにくいと考えられている。目的：ミトコンドリア遺伝子異常がある増殖糖尿病網膜症の症例に硝子体手術を行った報告。症例：感音性難聴がある36歳男性が糖尿病網膜症で受診した。22歳で糖尿病を指摘され，26歳からインスリン注射を行っている。母は若年時から糖尿病があり，母方の祖母に糖尿病がある。兄はミトコンドリア遺伝子異常を指摘されたことがある。所見：矯正視力は右手動弁，左1.0で，右眼に牽引性網膜剝離と硝子体出血があった。ミトコンドリア解析でアデニンからグアニンへの点変異がmtDNA3243にあった。右眼に硝子体手術を行い，良好な結果が得られた。9か月後に左眼に硝子体出血が生じ，硝子体手術を行った。右0.25，左0.9の最終視力が得られた。結論：ミトコンドリア遺伝子異常がある増殖糖尿病網膜症に対しても，硝子体手術が有効であった。

Abstract.　Background：It is assumed that proliferative retinopathy is mild in diabetic patients with mutation in mitochondrial gene. Purpose：To report a case with diabetes mellitus and mitochondrial mutation who underwent vitrectomy for proliferative retinopathy. Case：A 36-year-old male presented with diabetic retinopathy and sensorineural deafness. He had been diagnosed with diabetes at the age of 22 years and had been treated by insulin since the age of 26 years. His mother and maternal grandmother had had diabetes. Mutation in mitochondrial gene had been detected in his brother. Findings：His corrected visual acuity was hand motion right and 1.0 left. The right eye showed traction retinal detachment with vitreous hemorrhage. Mitochondrial analysis showed point mutation of adenine to guanine at mtDNA3243. Vitrectomy was performed on the right eye with good outcome. The left eye received vitrectomy for vitreous hemorrhage 9 months later,resulting in final visual acuity of 0.25 right and 0.9 left. Conclusion：Vitrectomy was effective for proliferative retinopathy even in the presence of mitochondrial mutation.