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要約 目的:isolated choroidal melanocytosisは,眼球および皮膚のメラノサイトーシスにみられる強膜や皮膚色素沈着を伴わず,先天性のメラノサイト性脈絡膜色素沈着を特徴とした非常に稀な疾患である。今回,筆者らはbilateral isolated choroidal melanocytosisの1例を経験したので報告する。
症例:56歳,女性。糖尿病の眼合併症の精査目的で当科を受診した。初診時の矯正視力は両眼1.2,眼圧は両眼20mmHgで,前眼部および中間透光体に特記すべき事項はなかった。超広角眼底写真では,両眼底に360度連続した色素沈着が環状に広がっていた。眼底自発蛍光とフルオレセイン蛍光眼底造影は正常であったが,インドシアニングリーン蛍光眼底造影の後期相では病巣部に一致した低蛍光を認めた。光干渉断層計では網膜および脈絡膜に構造的変化はなかったが,緑内障によるganglion cell complex厚の菲薄化を認めた。網膜電図では網膜神経節細胞の応答であるphotopic negative responseの振幅低下がみられたが,他の成分は正常であった。
結論:本症例では,眼球および皮膚のメラノサイトーシスにみられる強膜や皮膚色素沈着を伴わず,広範囲の脈絡膜色素沈着のみを認めた。病巣部の構造的・機能的な異常は認めないことから,bilateral isolated choroidal melanocytosisと診断した。
Abstract Purpose:Isolated choroidal melanocytosis is a rare disease characterized by congenital melanocytic choroidal pigmentation without associated scleral or cutaneous pigmentation observed in ocular and cutaneous melanocytosis. This report presents a case of isolated bilateral choroidal melanocytosis.
Case:A 56-year-old woman was referred to our department for further evaluation of diabetic complications. At the initial examination, her corrected visual acuity was 1.2 in both eyes, intraocular pressure was 20 mmHg in both eyes, and no remarkable findings were observed in the anterior segment or ocular media. Ultra-wide-angle fundus photography revealed 360° annular hyperpigmentation in the fundus of both eyes. Fundus autofluorescence and fluorescein angiography results were normal;however, late indocyanine green angiography revealed hypofluorescence consistent with the lesion. Optical coherence tomography showed no structural changes in the retina or choroid but detected thinning of the ganglion cell complex due to glaucoma. The electroretinogram demonstrated a decreased amplitude of the photopic negative response, which reflects retinal ganglion cell function, while other components remained normal.
Conclusion:In this case, extensive choroidal pigmentation was observed without the scleral or cutaneous pigmentation observed in ocular and cutaneous melanocytosis. Since no structural or functional abnormalities were detected in the lesion, a diagnosis of bilateral isolated choroidal melanocytosis was made.

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