神経線維腫症1型での脈絡膜光干渉断層計像

Findings by optical coherence tomography of the choroid in two cases of neurofibromatosis type Ⅰ

要約　目的：神経線維腫症1型の2症例4眼でのswept source光干渉断層計（OCT）による脈絡膜の所見の報告。症例：1例は15歳女性，他の1例は18歳男性で，いずれも神経線維腫症1型として小児科から紹介された。両症例とも視力は良好で，両眼にLisch結節のみがあった。近赤外光による走査型レーザー検眼鏡で，高輝度の脈絡膜病変が散在していた。Swept source OCTで，これに一致する脈絡膜部位に高反射があった。結論：神経線維腫症1型は発生学的に神経堤に由来する細胞の発達異常で，脈絡膜にはメラニン色素細胞の増殖があることから，OCTによる高信号は，これら脈絡膜間質を構成する細胞の増殖部位に相当すると考えられる。

Abstract.　Purpose：To report findings by optical coherence tomography of the choroid in two cases of neurofibromatosis type Ⅰ. Cases：One was a 15-year-old female and the other was an 18-year-old male who were diagnosed with neurofibromatosis type 1 and who were referred to us from the department of pediatrics. Both showed good visual acuity and showed Lisch nodules in both eyes as the sole ophthalmological manifestations. Scanning laser ophthalmoscope using near infrared showed scattered high-reflective areas. Swept-source optical coherence tomography showed high reflection signals in the choroid. Conclusion：Neurofibromatosis type Ⅰ is manifestations of abnormal proliferation of the neural crest. Proliferation of melanocytes is also present in the choroid. The observed high reflection is regarded as due to proliferation of cells in the interstitial choroid.