Benson Matthew D, Rubin Uriel, Cheema Marvi, MacDonald Ian M, Tennant Matthew T S, Hinz Brad J, Somani Rizwan
Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
J Vitreoretin Dis. 2019 Oct 16;4(3):243-247. doi: 10.1177/2474126419873547. eCollection 2020 Jun.
This report describes and provides a differential diagnosis for a patient with unusual bilateral retinal pigmented lesions.
A 40-year-old woman was found to have multiple flat, gray lesions scattered across her fundi, becoming larger and more confluent toward the periphery. There were small drusenlike deposits in her foveae. The hyperpigmented lesions demonstrated hypoautofluorescence with thickening of the retinal pigment epithelium and disruption of the overlying layers on optical coherence tomography (OCT). Full-field electroretinography revealed generalized reduced a- and b-wave amplitudes.
Chest x-ray, breast ultrasound, mammography, and pelvic ultrasound findings were negative for malignant etiologic factors. Panel testing results for hereditary retinal dystrophy were negative.
Although the clinical and OCT appearance of the lesions is similar to congenital grouped pigmentation, the symmetric and bilateral nature of ocular findings coupled with electroretinographic changes suggest a possible retinal dystrophy. This case adds to the phenotypic diversity of pigmented fundus lesions.
本报告描述了一名患有不寻常双侧视网膜色素性病变的患者，并提供鉴别诊断。
一名40岁女性被发现眼底有多个扁平的灰色病变，向周边部逐渐增大且融合。其黄斑区有小的玻璃膜疣样沉积物。色素沉着病变在光学相干断层扫描（OCT）上表现为低自发荧光，伴有视网膜色素上皮增厚和上层结构破坏。全视野视网膜电图显示a波和b波振幅普遍降低。
胸部X线、乳腺超声、乳腺钼靶和盆腔超声检查结果均未发现恶性病因。遗传性视网膜营养不良的分组检测结果为阴性。
尽管病变的临床和OCT表现与先天性聚集性色素沉着相似，但眼部表现的对称性和双侧性以及视网膜电图改变提示可能为视网膜营养不良。该病例增加了眼底色素性病变的表型多样性。
