Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.
Genes (Basel). 2023 Jul 13;14(7):1438. doi: 10.3390/genes14071438.
Retinal angiomatous proliferation (RAP) and other types of choroidal neovascularization (CNV) are very rarely reported in patients with retinitis pigmentosa (RP). We present a case report of a 91-year-old patient with an obvious RP phenotype, who presented with a sudden onset of vision worsening and metamorphopsia in the left eye. Genetic testing on the UK inherited retinal disease panel did not identify a pathogenic variant. Multimodal imaging comprising optical coherence tomography (OCT), OCT angiography, and fluorescein and indocyanine green angiography showed a RAP lesion in the left macula. The patient received three treatments of monthly injections of aflibercept, with excellent morphological and functional outcomes. Taking into account the patient's age at presentation of the RAP lesion, it is not clear whether the RAP was associated or coincidental with RP. This case report highlights the importance of possessing an awareness that RAP lesions can occur in RP. Moreover, due to a good response and potential safety concerns with continuous anti-VEGF injections in RP patients, a pro re nata (PRN) regimen might be the safest option.
视网膜血管瘤增殖（RAP）和其他类型的脉络膜新生血管（CNV）在色素性视网膜炎（RP）患者中非常罕见。我们报告了一例 91 岁患者，该患者具有明显的 RP 表型，左眼突然出现视力下降和视物变形。英国遗传性视网膜疾病小组的基因检测未发现致病性变异。包括光学相干断层扫描（OCT）、OCT 血管造影、荧光素和吲哚青绿血管造影在内的多模态成像显示左眼黄斑区有 RAP 病变。该患者接受了三次每月注射阿柏西普的治疗，具有出色的形态和功能结果。考虑到患者 RAP 病变的发病年龄，尚不清楚 RAP 是否与 RP 相关或巧合。本病例报告强调了需要意识到 RAP 病变可能发生在 RP 中。此外，由于 RP 患者对连续抗 VEGF 注射有良好的反应和潜在的安全性问题，PRN 方案可能是最安全的选择。
