Centre for Ophthalmology and Visual Science (Lions Eye Institute), The University of Western Australia, Nedlands, WA, Australia; Royal Victorian Eye and Ear Hospital (Centre for Eye Research Australia), East Melbourne, VIC, Australia.
Centre for Ophthalmology and Visual Science (Lions Eye Institute), The University of Western Australia, Nedlands, WA, Australia; Royal Victorian Eye and Ear Hospital (Centre for Eye Research Australia), East Melbourne, VIC, Australia; Ophthalmology, Department of Surgery, The University of Melbourne, East Melbourne, VIC, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia.
Surv Ophthalmol. 2024 Jan-Feb;69(1):1-23. doi: 10.1016/j.survophthal.2023.07.007. Epub 2023 Aug 6.
Inherited retinal diseases (IRDs) are the most common cause of blindness in working-age adults. Macular neovascularization (MNV) may be a presenting feature or occurs as a late-stage complication in several IRDs. We performed an extensive literature review on MNV associated with IRDs. MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt disease may masquerade as exudative age-related macular degeneration (AMD) when MNV is the presenting feature. Peripherinopathies may develop MNV that responds well to a short course of anti-vascular endothelial growth factor (anti-VEGF) therapy, while bestrophinopathies tend to develop MNV in the early stages of the disease without vision loss. Enhanced S-cone syndrome manifests type 3 MNV that typically regresses into a subfoveal fibrotic nodule. MNV is only a rare complication in choroideraemia and rod-cone dystrophies. Most IRD-related MNVs exhibit a favorable visual prognosis requiring less intensive regimens of anti-vascular endothelial growth factor therapy compared to age-related macular degeneration. We discuss the role of key imaging modalities in the diagnosis of MNV across a wide spectrum of IRDs and highlight the gaps in our knowledge with respect to the natural history and prognosis to pave the way for future directions of research.
遗传性视网膜疾病（IRDs）是导致成年工作人群失明的最常见原因。脉络膜新生血管（MNV）可能是几种 IRD 的首发特征，也可能是晚期并发症。我们对与 IRD 相关的 MNV 进行了广泛的文献回顾。MNV 是 Sorsby 眼底营养不良和假性黄色瘤弹性组织变性的已知并发症。当 MNV 是首发特征时，迟发性 Stargardt 病可能会伪装为渗出性年龄相关性黄斑变性（AMD）。周边感光细胞病变可能会发生对短期抗血管内皮生长因子（anti-VEGF）治疗反应良好的 MNV，而 Bestrophinopathy 则倾向于在疾病早期发生 MNV，而不会导致视力丧失。增强 S- cone 综合征表现为 3 型 MNV，通常会退化为中心凹下纤维性结节。MNV 仅是脉络膜贫血和杆状圆锥细胞营养不良的罕见并发症。与年龄相关性黄斑变性相比，大多数与 IRD 相关的 MNV 具有良好的视力预后，需要较少强化的抗血管内皮生长因子治疗方案。我们讨论了在广泛的 IRD 谱中，各种关键成像方式在 MNV 诊断中的作用，并强调了我们在自然病史和预后方面的知识差距，为未来的研究方向铺平了道路。
