Cohen Devin C, Sumaroka Alexander, Paulos Joshua A, Mitchell Tara C, Santos Arlene J, O'Neil Erin C, Bedoukian Emma C, Adamus Grazyna, Cideciyan Artur V, Aleman Tomas S
Scheie Eye Institute, Department of Ophthalmology, Pereleman School of Medicine, University of Pennsylvania, Philadelphia, United States.
Abramson Cancer Center, United States, Pereleman School of Medicine, University of Pennsylvania, Philadelphia, United States.
Am J Ophthalmol Case Rep. 2024 Jul 5;36:102098. doi: 10.1016/j.ajoc.2024.102098. eCollection 2024 Dec.
To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of -associated Congenital Stationary Night Blindness (-CSNB).
Unilateral MAR was diagnosed 3 months after starting nivolumab therapy for consolidation of a successfully treated melanoma. Retinal autoantibodies against TRPM1 were identified. ffERG, microperimetry and static chromatic perimetry confirmed unilateral ON-Bipolar Cell (ON-BPC) dysfunction and central rod sensitivity losses in the left eye; the contralateral eye was normal. There was borderline ganglion cell (GCL) and inner nuclear layer (INL) thinning, but a significantly thinner inner plexiform layer (IPL) in the affected compared to the unaffected eye. Longitudinal reflectivity profiles (LRPs) demonstrated an abnormal inner plexiform layer (IPL) lamination in the involved eye. Nearly identical changes were documented in two cases of -cCSNB and in a case of anti-TRPM1 autoantibody-negative MAR. The functional changes partially recovered with discontinuation of the medication without added immunosuppression.
Comparisons between the affected and unaffected eye in this unilateral MAR case revealed inner retinal abnormalities and abnormal lamination of the IPL associated with the classical retina-wide ON-BPC dysfunction, and localized central rod-mediated sensitivity losses. A nearly identical structural phenotype in two cases of cCSNB and a case of anti-TRPM1 autoantibody-negative MAR supports a specific structural-functional phenotype for these conditions with ON-BPC dysfunction.
描述由纳武单抗治疗引发的抗TRPM1自身抗体阳性的罕见单侧黑色素瘤相关性视网膜病变（MAR）病例的视网膜表型，并与相关的先天性静止性夜盲症（-CSNB）的表型进行比较。
在开始使用纳武单抗治疗以巩固成功治疗的黑色素瘤3个月后，诊断出单侧MAR。鉴定出针对TRPM1的视网膜自身抗体。全视野视网膜电图（ffERG）、微视野检查和静态色觉视野检查证实左眼存在单侧ON双极细胞（ON-BPC）功能障碍和中央视杆敏感度丧失；对侧眼正常。存在临界性神经节细胞层（GCL）和内核层（INL）变薄，但与未受影响的眼睛相比，受影响眼睛的内丛状层（IPL）明显更薄。纵向反射率剖面图（LRP）显示受累眼的内丛状层（IPL）分层异常。在两例-cCSNB和一例抗TRPM1自身抗体阴性的MAR病例中记录到几乎相同的变化。在未添加免疫抑制的情况下停药后，功能变化部分恢复。
在这例单侧MAR病例中，对受影响和未受影响眼睛的比较显示，视网膜内层异常以及IPL分层异常与典型的全视网膜ON-BPC功能障碍和局限性中央视杆介导的敏感度丧失相关。两例cCSNB和一例抗TRPM1自身抗体阴性的MAR病例中几乎相同的结构表型支持了这些伴有ON-BPC功能障碍的病症具有特定的结构-功能表型。
