Walter P, Kirchhof B, Korge B, Heimann K
Department of Ophthalmology, University of Cologne, Germany.
Graefes Arch Clin Exp Ophthalmol. 1997 Jun;235(6):359-61. doi: 10.1007/BF00937284.
Birt-Hogg-Dubé's syndrome is a rare skin disease characterized by multiple trichofibromas of the skin and polyps of the intestine. Ophthalmologic manifestations associated with the syndrome have not been reported in detail.
Two siblings suffering from Birt-Hogg-Dubé syndrome were examined clinically. Electrooculography and electroretinography were performed according to international standards. Color fundus photographs were taken as well as fluorescein angiograms. The two patients showed multiple perifollicular fibromas and trichodiscomas of the skin of the head. Funduscopy and fluorescein angiography revealed a flecked chorioretinopathy in one patient with progressive constriction of visual fields and severely reduced electroretinographic responses. Ophthalmoscopy in his sister showed peripheral pigmentary changes with only minor functional abnormalities.
These findings suggest that Birt-Hogg-Dubé syndrome may be associated with a progressive flecked chorioretinopathy with constricted visual fields and that patients with the syndrome should undergo ophthalmological examination.
Birt-Hogg-Dubé综合征是一种罕见的皮肤病，其特征为皮肤多发毛发纤维瘤和肠道息肉。该综合征相关的眼科表现尚未有详细报道。
对两名患有Birt-Hogg-Dubé综合征的同胞进行了临床检查。按照国际标准进行了眼电图和视网膜电图检查。拍摄了彩色眼底照片以及荧光素血管造影照片。两名患者头部皮肤均有多发毛囊周围纤维瘤和毛发盘状瘤。眼底镜检查和荧光素血管造影显示，一名患者患有斑点状脉络膜视网膜病变，伴有视野逐渐缩窄和视网膜电图反应严重降低。他姐姐的眼底镜检查显示周边色素沉着改变，仅伴有轻微功能异常。
这些发现表明，Birt-Hogg-Dubé综合征可能与伴有视野缩窄的进行性斑点状脉络膜视网膜病变有关，该综合征患者应接受眼科检查。
