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色素性视网膜炎一种变异型中的双侧视网膜血管瘤样增殖

Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa.

作者信息

Aloe G, De Sanctis C M, Strafella C, Cascella R, Missiroli F, Cesareo M, Giardina E, Ricci F

机构信息

Unit Retinal Pathology PTV Foundation, Tor Vergata University, Rome, Italy.

Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.

出版信息

Case Rep Ophthalmol Med. 2019 Jul 31;2019:8547962. doi: 10.1155/2019/8547962. eCollection 2019.

DOI:10.1155/2019/8547962
PMID:31467752
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6699319/
Abstract

PURPOSE

To describe the first case of bilateral retinal angiomatous proliferation (RAP) in a patient with a variant of retinitis pigmentosa (RP).

CASE REPORT

An 85-year-old man with RP presented with visual acuity decrease and metamorphopsia in the left eye (LE). Fundus examination revealed typical signs of RP in both eyes, associated with intraretinal macular hemorrhage in the LE. Multimodal imaging, using Colour fundus Photography, Fluorescein (FA), and Indocyanine Green Angiography (ICGA) as well as Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCTA), revealed a type 3 neovascular lesion in the involved eye. Genetic testing (NGS analysis) was performed to search for genetic variants correlated with the disease phenotype displayed by the patient. The patient was treated with intravitreal injections of bevacizumab, according to a fixed protocol of bimonthly injections plus a booster dose at second month. After 9 months, he was referred for visual acuity decrease and metamorphopsia in the fellow eye, where SD-OCT/OCTA showed a type 3 neovascular lesion in the right eye (RE). He was scheduled for intravitreal injections of bevacizumab. In both eyes, treatment with intravitreal bevacizumab was successful.

摘要

目的

描述一名患有色素性视网膜炎(RP)变异型患者的首例双侧视网膜血管瘤样增生(RAP)病例。

病例报告

一名85岁的RP男性患者,左眼(LE)出现视力下降和视物变形。眼底检查发现双眼均有典型的RP体征,左眼伴有视网膜黄斑部出血。采用彩色眼底照相、荧光素(FA)、吲哚菁绿血管造影(ICGA)以及光谱域光学相干断层扫描(SD-OCT)和光学相干断层扫描血管造影(OCTA)等多模态成像技术,发现患眼存在3型新生血管病变。进行了基因检测(NGS分析)以寻找与患者所表现疾病表型相关的基因变异。根据每两个月注射一次并在第二个月追加一剂的固定方案,对该患者进行了玻璃体腔注射贝伐单抗治疗。9个月后,他因对侧眼出现视力下降和视物变形前来就诊,SD-OCT/OCTA显示右眼(RE)有3型新生血管病变。他被安排进行玻璃体腔注射贝伐单抗治疗。双眼玻璃体腔注射贝伐单抗治疗均取得成功。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f9a/6699319/3d5f2569b25d/CRIOPM2019-8547962.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f9a/6699319/7822aa3cc334/CRIOPM2019-8547962.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f9a/6699319/3d5f2569b25d/CRIOPM2019-8547962.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f9a/6699319/7822aa3cc334/CRIOPM2019-8547962.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f9a/6699319/3d5f2569b25d/CRIOPM2019-8547962.002.jpg

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