神経線維腫症1型に網膜色素変性症を合併した姉弟例

Neurofibromatosis type 1 and retinitis pigmentosa in a boy and his sister

要約　目的：神経線維腫症1型と網膜色素変性症が併発した姉弟例の報告。症例：神経線維腫症1型と診断された8歳男児が精査のため受診した。両眼に梨子地眼底があり，蛍光眼底造影で点状の過蛍光を呈した。網膜電図は消失型であり，網膜色素変性症と診断した。9歳の姉も神経線維腫症1型と診断され，両眼にLischの虹彩結節があり，弟と同様な眼底と網膜電図所見を呈し，網膜色素変性症と診断した。ICG蛍光造影で両名の眼底後極部に多数の低蛍光斑があり，脈絡膜循環障害が疑われた。母，母方祖父，母方伯母に神経線維腫症があり，父に網膜色素変性症があった。結論：母方に神経線維腫症，父に網膜色素変性症がある姉弟に神経線維腫症1型と網膜色素変性症が併発した。神経線維腫症が網膜色素変性症の病像を修飾している可能性がある。

Abstract.　Purpose：To report neurofibromatosis type 1 and retinitis pigmentosa in two siblings. Cases：An 8-year-boy was diagnosed with neurofibromatosis type 1 and was referred to us. Both eyes showed mottled fundus with diffuse punctuate hyperfluorescence by fluorescein angiography. Electroretinogram was nonrecordable. He was diagnosed with retinitis pigmentosa. His 9-year-old sister was examined and was diagnosed with neurofibromatosis type 1 and retinitis pigmentosa. ICG angiography showed numerous hypofluorescent spots suggesting impaired choroidal circulation. Their mother,maternal aunt and grandfather had neurofibromatosis. Their father had retinitis pigmentosa. Conclusion：Two siblings were diagnosed with neurofibromatosis type 1 and retinitis pigmentosa. Neurofibromatosis was present in the maternal pedigree and retinitis pigmentosa was present in their father. Neurofibromatosis may have modified fundus findings in the siblings.