Ie Amanda, Sagoo Mandeep S, MacLaren Robert E, Cehajic-Kapetanovic Jasmina
Oxford Eye Hospital, NHS Foundation Trust, Oxford, UK.
UCL Institute of Ophthalmology and Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Ocul Oncol Pathol. 2024 Sep;10(3):175-181. doi: 10.1159/000538984. Epub 2024 May 20.
Retinal focal nodular gliosis (FNG), also known as vasoproliferative tumors (VPTs), are rare, benign vascular tumors associated with exudation with no current consensus on management. Herein, we describe the varied clinical course and management of 3 patients with retinal FNG, one of whom is associated with retinitis pigmentosa.
Case 1 is a 76-year-old female who presented with reduced vision and distortion secondary to a vitreous hemorrhage and epiretinal membrane (ERM) as complications of a known small peripheral retinal FNG. She underwent vitrectomy for the hemorrhage to relieve vascular traction and the ERM peel, and the tumor was kept under observation. Case 2 is a 24-year-old female with genetically uncharacterized retinitis pigmentosa-like phenotype who presented with gradual loss of central vision in one eye due to cystoid macular oedema (CMO). She was found to have two peripheral retinal areas of FNG located inferonasally. Tumors were treated with cryotherapy and adjuvant intraocular steroid implant to control the CMO. Case 3 is a 28-year-old female with retinitis pigmentosa secondary to genetically confirmed variant in gene who presented with intractable right eye CMO and localized inferior serous retinal detachment secondary to a large inferotemporal FNG. Her left eye has no light perception vision due to previous extensive serous retinal detachment and anterior segment ischemia. The right eye tumor was managed with multiple rounds of cryotherapy and laser therapy to control the serous detachment. Despite this, the condition progressed and was ultimately treated with plaque brachytherapy. Unfortunately, this resulted in extensive retinal inflammation causing annular tractional retinal detachment which was treated with combined pars plana vitrectomy and scleral buckle.
We characterized the retinal phenotype of 3 patients with retinal FNG (VPTs) and found them to have varied clinical courses requiring tailored surgical management. The case associated with retinitis pigmentosa had a known pathogenic variant in (CRB1) gene affecting retinal structure and exhibited a more severe clinical course. It is therefore important for patients with retinal dystrophies to undergo thorough peripheral examinations and detect FNG early as they may require prompt, aggressive treatment.
视网膜局灶性结节性胶质增生（FNG），也称为血管增生性肿瘤（VPTs），是一种罕见的良性血管肿瘤，伴有渗出，目前在治疗上尚无共识。在此，我们描述了3例视网膜FNG患者的不同临床病程及治疗情况，其中1例与色素性视网膜炎相关。
病例1是一名76岁女性，因已知的周边小视网膜FNG并发玻璃体积血和视网膜前膜（ERM），出现视力下降和视物变形。她接受了玻璃体切除术以清除出血、缓解血管牵拉并剥除ERM，肿瘤则予以观察。病例2是一名24岁女性，具有未明确基因特征的色素性视网膜炎样表型，因黄斑囊样水肿（CMO）导致一只眼睛的中心视力逐渐丧失。她被发现鼻下象限有两个周边视网膜FNG区域。对肿瘤进行了冷冻治疗并辅助眼内植入类固醇以控制CMO。病例3是一名28岁女性，因基因确诊的 基因变异继发色素性视网膜炎，因一个大的颞下FNG出现难治性右眼CMO和局限性下方浆液性视网膜脱离。她的左眼因先前广泛的浆液性视网膜脱离和前段缺血而无光感视力。右眼肿瘤通过多轮冷冻治疗和激光治疗来控制浆液性脱离。尽管如此，病情仍进展，最终接受了敷贴近距离放射治疗。不幸的是，这导致了广泛的视网膜炎症，引起环形牵拉性视网膜脱离，随后接受了玻璃体切除联合巩膜扣带术治疗。
我们对3例视网膜FNG（VPTs）患者的视网膜表型进行了特征描述，发现他们有不同的临床病程，需要针对性的手术治疗。与色素性视网膜炎相关的病例在 （CRB1）基因中有已知的致病变异，影响视网膜结构，临床病程更严重。因此，对于患有视网膜营养不良的患者，进行全面的周边检查并尽早发现FNG很重要，因为他们可能需要及时、积极的治疗。
