遺伝性血管神経性浮腫に加齢黄斑変性を合併した1例

Age-related macular degeneration in a case of hereditary angioneurotic edema

要約　背景：遺伝性血管神経性浮腫ではC1抑制因子が欠如している。C1抑制因子には遺伝子多型があり，加齢黄斑変性との関連が報告されている。目的：遺伝性血管神経性浮腫に加齢黄斑変性が発症した症例の報告。症例：69歳男性が9か月前からの右眼視力低下で受診した。過去に発作時の採血などから，遺伝性血管神経性浮腫と診断されている。所見：矯正視力は右0.9，左1.0であり，右眼に網膜下の線維血管膜増殖があった。7か月後に右眼視力が0.4に低下し，加齢黄斑変性と診断した。光線力学療法などで14か月後に視力が1.0に改善した。左眼には黄斑外にドルーゼンがある以外には病的所見はなかった。結論：本症例では，C1抑制因子の欠損が加齢黄斑変性の発症に関与した可能性がある。

Abstract.　Background：Hereditary angioneurotic edema（HANE）is caused by complement activation of inherent deficiency of C1 inhibitor. Gene polymorphism of deficient C1 inhibitor has been reported in relation to age-related macular degeneration（AMD）. Purpose：To report a case of HANE who developed unilateral AMD. Case：A 69-year-old male presented with impaired visual acuity in the right eye since 9 months before. He had been diagnosed with HANE with positive hematological findings before. Findings：Corrected visual acuity was 0.9 right and 1.0 left. The right eye showed subretinal fibrovascular proliferation in the paramacular area. He was diagnosed with AMD after visual acuity in the right eye deteriorated to 0.4 seven months later. Visual acuity improved to 1.0 fourteen months later following photodynamic therapy and intravitreal injection of ranibizumab. The left eye showed normal findings except paramacular drusen throughout. Conclusion：There is a possibility that complement activation by C1 inhibitor deficiency was associated with the onset of AMD in the present case.