Kim Min Seok, Hong Hye Kyoung, Ko You Jin, Park Kyu Hyung, Ueno Shinji, Okado Satoshi, Woo Se Joon, Joo Kwangsic
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 173-82 Gumi-ro, Bundang-gu, Seongnam-si, Gyeonggi-do, 13620, South Korea.
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Doc Ophthalmol. 2020 Dec;141(3):313-318. doi: 10.1007/s10633-020-09772-1. Epub 2020 May 29.
To report a case of melanoma-associated retinopathy (MAR) with autoantibodies against the transient receptor potential cation channel, subfamily M, member 1 (TRPM1) with asymmetric severe vision loss.
We evaluated a patient with heel skin melanoma showing progressive vision loss in both eyes confirmed with a baseline ophthalmic examination, fluorescein angiography, spectral domain optical coherence tomography (OCT), visual field test, and full-field electroretinogram (ERG). Immunofluorescence assays and western blot analysis revealed autoantibodies in the patient's serum.
The patient's best-corrected visual acuities were 20/50 in the right eye and hand motion in the left eye. Visual field test showed severely depressed visual fields especially in the left eye. Fluorescein angiography and OCT revealed extrafoveal choroidal neovascularization in the left eye. The patient had an electronegative ERG, suggesting MAR, and autoantibodies against TRPM1 and aldolase C were detected in the patient's blood sample.
The clinical features of MAR patients with positive anti-TRPM1 autoantibodies can be manifested as severe vision loss, and the identification of autoantibodies can be helpful for confirming the diagnosis.
报告一例黑色素瘤相关性视网膜病变(MAR),患者血清中存在针对瞬时受体电位阳离子通道M亚家族成员1(TRPM1)的自身抗体,并伴有不对称性严重视力丧失。
我们评估了一名足跟皮肤黑色素瘤患者,通过基线眼科检查、荧光素血管造影、光谱域光学相干断层扫描(OCT)、视野检查和全视野视网膜电图(ERG)证实双眼视力进行性下降。免疫荧光测定和蛋白质印迹分析显示患者血清中存在自身抗体。
患者右眼最佳矫正视力为20/50,左眼为手动。视野检查显示视野严重缺损,尤其是左眼。荧光素血管造影和OCT显示左眼黄斑外脉络膜新生血管形成。患者视网膜电图呈阴性,提示为MAR,且在患者血液样本中检测到抗TRPM1和醛缩酶C自身抗体。
抗TRPM1自身抗体阳性的MAR患者的临床特征可表现为严重视力丧失,自身抗体的鉴定有助于确诊。