木全 正嗣

＜文献概要＞目的:網膜と水晶体前嚢の異常を示し,水晶体再建術により良好な視力を得たアルポート症候群の症例の報告。症例:27歳男性。両眼の視力低下で当院紹介となった。既往歴にアルポート症候群で腎移植歴があった。所見:矯正視力は右0.3,左0.5で,両眼に前部円錐水晶体があり,両眼黄斑耳側に白色斑の散在を認め,光干渉断層計では同部位の網膜内層菲薄化を認めた。黄斑微小視野計では同部位に感度低下を認めず,多局所網膜電図でも同部位に一致した振幅の減弱はなかった。当院にて両眼の水晶体再建術を施行した。採取した前嚢は菲薄化し,亀裂を無数に認めた。水晶体上皮細胞の空胞化と細胞内小器官の減少が観察された。術後矯正視力は両眼とも1.0と改善した。結語:網膜形態異常と前部円錐水晶体を伴うアルポート症候群を経験した。検査上,前部円錐水晶体による屈折異常を認めたが,網膜菲薄部位に一致する明らかな機能的異常は認めず,水晶体再建術により良好な視力を得られた。前部円錐水晶体は,水晶体嚢の脆弱化による構造異常のためと考えられた。

Purpose: To report a case of Alport syndrome with abnormal retina and anterior capsule in the lens. Case: A 27-year-old male was referred to us for reduced visual acuity in both eyes. He had received renal transplantation for renal failure due to Alport syndrome. Findings and Clinical Course: Corrected visual acuity was 0.3 right and 0.5 left. Both eyes showed anterior lenticonus in both eyes. Funduscopy showed dot-and-fleck lesions in the perimacular and peripheral retina. Optical coherence tomography showed thinning of inner layer in the temporal retina in both eyes. There was no loss of sensitivity at these sites by microperimetry. Multifocal ERG showed no amplitude attenuation in the thinned retinal area. Both eyes received cataract surgery. The removed anterior capsule showed thinning and multiple vertical dehiscences by electron microscopy. Lens epithelial cells were vacuolated and contained fewer intracellular organelles. Visual acuity improved to 1.0 in either eye. Conclusion: This case of Alport syndrome showed refractive abnormalities due to lenticonus but no obvious retinal dysfunction. The lens capsule showed structural abnormalities. Visual acuity improved after cataract surgery.