Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland; and.
Center for Ocular Regenerative Therapy, UC Davis Eye Center, University of California Davis, Sacramento, California.
Retina. 2021 Nov 1;41(11):2236-2245. doi: 10.1097/IAE.0000000000003205.
To describe longitudinal multimodal imaging findings of nonexudative choroidal neovascularization in CTRP5 late-onset retinal degeneration.
Four patients with CTRP5-positive late-onset retinal degeneration underwent repeated ophthalmoscopic examination and multimodal imaging. All four patients (two siblings and their cousins, from a pedigree described previously) had the heterozygous S163R mutation.
All four patients demonstrated large subretinal lesions in the mid-peripheral retina of both eyes. The lesions were characterized by confluent hypercyanescence with hypocyanescent borders on indocyanine green angiography, faintly visible branching vascular networks with absent/minimal leakage on fluorescein angiography, Type 1 neovascularization on optical coherence tomography angiography, and absent retinal fluid, consistent with nonexudative choroidal neovascularization. The neovascular membranes enlarged substantially over time and the birth of new membranes was observed, but all lesions remained nonexudative/minimally exudative. Without treatment, all involved retinal areas remained free of atrophy and subretinal fibrosis.
We report the existence of massive advancing nonexudative Type 1 choroidal neovascularization in CTRP5 late-onset retinal degeneration. These findings have implications for age-related macular degeneration. They provide a monogenic model system for studying the mechanisms underlying the distinct events of choroidal neovascularization development, enlargement, progression to exudation, and atrophy in age-related macular degeneration. They suggest that choroidal hypoperfusion precedes neovascularization and that nonexudative neovascularization may protect against atrophy.
描述 CTRP5 型晚发性视网膜变性中非渗出性脉络膜新生血管的纵向多模态成像发现。
4 名携带 CTRP5 阳性的晚发性视网膜变性患者接受了重复的眼科检查和多模态成像。这 4 名患者（来自之前描述的一个家系的 2 名兄弟姐妹及其表亲）均携带杂合 S163R 突变。
所有 4 名患者的双眼周边部中都出现了大的视网膜下病变。这些病变的特征是吲哚菁绿血管造影呈融合性强荧光伴弱荧光边界，荧光素血管造影呈隐约可见的分支状血管网伴无/最小渗漏，光学相干断层扫描血管造影呈 1 型新生血管，视网膜下无液体积聚，符合非渗出性脉络膜新生血管。新生血管膜随时间显著增大，并观察到新膜的形成，但所有病变仍保持非渗出性/微渗出性。未经治疗，所有受累的视网膜区域均未发生萎缩和视网膜下纤维化。
我们报告了 CTRP5 型晚发性视网膜变性中存在大量进展性非渗出性 1 型脉络膜新生血管。这些发现对年龄相关性黄斑变性有意义。它们为研究年龄相关性黄斑变性中脉络膜新生血管发展、增大、进展为渗出和萎缩的不同事件的机制提供了一个单基因模型系统。这些发现提示脉络膜灌注不足先于新生血管形成，而非渗出性新生血管可能有助于防止萎缩。
