Tsuchiya Takako, Kato Masaru, Tomita Natsuyo, Koide Kenro, Hata Norimasa, Sato Miho, Hotta Yoshihiro, Ueno Makoto, Nakamura Makoto, Miyake Yozo
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Jpn J Ophthalmol. 2004 Jan-Feb;48(1):72-4. doi: 10.1007/s10384-003-0002-6.
A case of sectorial benign flecked retina not associated with an RDH5 gene mutation is reported.
A 51-year-old woman showed multiple yellow-white flecks in both eyes similar to those of benign flecked retina but in only the upper half of the retina. We carried out clinical, electrophysiological, and molecular genetic examinations of the patient.
Visual acuity was 20/20 OD and 20/20 OS. Fluorescein angiography showed diffuse irregular hypofluorescence that did not correspond to the flecked lesions. A Goldmann-Weeker adaptometer test revealed that the visual threshold of the upper retina was approximately 0.6 to 0.8 log units higher than that of the lower retina. No mutations of the RDH5 gene were detected in exons 2-5 or in the flanking intron sequences.
To our knowledge, this is the first report of sectorial benign flecked retina, and the flecks may not be caused by an RDH5 gene mutation.
报告一例与RDH5基因突变无关的扇形良性视网膜斑点症病例。
一名51岁女性双眼出现多个黄白色斑点，类似于良性视网膜斑点症，但仅见于视网膜上半部分。我们对该患者进行了临床、电生理和分子遗传学检查。
右眼视力20/20，左眼视力20/20。荧光素血管造影显示弥漫性不规则低荧光，与斑点状病变不对应。Goldmann-Weeker自适应光度计测试显示，上半部分视网膜的视觉阈值比下半部分视网膜高约0.6至0.8对数单位。在第2至5外显子或侧翼内含子序列中未检测到RDH5基因突变。
据我们所知，这是扇形良性视网膜斑点症的首例报告，且这些斑点可能并非由RDH5基因突变引起。
