Bonilla-Escobar Francisco J, Sawyer Charlie, Yang Paul, Pepple Kathryn L
Department of Ophthalmology, University of Washington, Seattle, WA, USA.
Fundación Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO/Science to Serve the Community Foundation, SCISCO Foundation, Cali, Colombia.
Am J Ophthalmol Case Rep. 2025 Jan 18;37:102252. doi: 10.1016/j.ajoc.2025.102252. eCollection 2025 Mar.
To detail the identification of a likely pathogenic variant in in a daughter-father duo, highlighting the diagnostic challenges in differentiating nonparaneoplastic autoimmune retinopathy (npAIR) from inherited retinal degeneration (IRD), particularly in the presence of an underlying autoimmune disease.
A 49-year-old woman with a history of systemic autoimmune disease presented with progressive peripheral vision loss, retinal vasculitis, and macular vitelliform lesions. The initial diagnosis of npAIR was later revised to an inherited retinal degeneration when her father was also found to be heterozygous for the same missense, likely pathogenic variant in the gene (c.659G > C:p.R220P). This -associated retinopathy was associated with photoreceptor and retinal pigmented epithelium degeneration as well as vascular leakage and retinal edema that resolved with intravitreal steroids.
The case of the proband underscores the diagnostic dilemma of differentiating npAIR from an IRD, especially in the presence of preexisting autoimmune disease. The identification of a likely pathogenic variant in adds to the genetic understanding of the spectrum of phenotypes that can be associated with this IRD. The effectiveness of intravitreal steroids in treating retinal edema in the proband supports its utility in recalcitrant cases of IRD-associated CME or retinal edema.
详细阐述在一对父女中鉴定出一种可能的致病变异，强调在区分非副肿瘤性自身免疫性视网膜病变（npAIR）与遗传性视网膜变性（IRD）时所面临的诊断挑战，尤其是在存在潜在自身免疫性疾病的情况下。
一名有全身性自身免疫性疾病病史的49岁女性，出现进行性周边视力丧失、视网膜血管炎和黄斑卵黄样病变。最初诊断为npAIR，后来当发现她的父亲在同一基因（c.659G>C:p.R220P）中也为该错义、可能的致病变异的杂合子时，诊断修订为遗传性视网膜变性。这种与该基因相关的视网膜病变与光感受器和视网膜色素上皮变性以及血管渗漏和视网膜水肿有关，玻璃体内注射类固醇后这些症状得到缓解。
先证者的病例突出了区分npAIR与IRD的诊断困境，特别是在存在既往自身免疫性疾病的情况下。在该基因中鉴定出一种可能的致病变异，增加了对可与此IRD相关的表型谱的遗传学理解。玻璃体内注射类固醇治疗先证者视网膜水肿的有效性，支持了其在治疗IRD相关的顽固性黄斑囊样水肿（CME）或视网膜水肿病例中的效用。
