臨床眼科62巻11号

2008年10月発行

特集 網膜硝子体診療update Ⅳ．注目の疾患 5.その他

黄斑ジストロフィ

著者： 近藤寛之¹

所属機関： ¹福岡大学医学部眼科学教室

ページ範囲：P.374 - P.382

はじめに

　黄斑ジストロフィは黄斑部に両眼性，進行性の機能障害を呈する疾患の総称である。疾患の多くは遺伝性と考えられているが，その原因は多様であり，臨床像もさまざまである。黄斑ジストロフィのなかで，はっきりとした臨床像が知られ，疾患概念が定まっているものとしてはStargardt病，X連鎖性若年網膜分離症，卵黄状黄斑ジストロフィ，錐体ジストロフィ，occult macular dystrophyなどがある（表1）。一方，臨床像が非定型的であり，上記のような疾患概念あるいは病態生理に当てはまらないものも多い。このような症例では眼底所見や蛍光眼底造影所見，電気生理学的検査を含む機能検査所見から病態を総合的に捉える必要がある。電気生理学的検査を含む診断には多くの総説が出されているので参照されたい^1,2）。

　黄斑ジストロフィに関する最近の注目すべき知見としては，眼底自発蛍光や光干渉断層計（optical coherence tomography：OCT）を含む画像診断の進歩が挙げられる。また，遺伝子診断を含む分子生物学的知見から新たな病態が明らかとなってきている。

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