Chen, Jing-Yi;
Chou, Hung-Da;
Chao, An-Ning;
Lai, Chi-Chun;
Sagoo, Mandeep S;
(2025)
Retinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease.
Taiwan Journal of Ophthalmology
, 15
(1)
pp. 138-142.
10.4103/tjo.TJO-D-24-00116.
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Abstract
In this study, we report a rare case of retinal vascular proliferation (RVP) in von Hippel–Lindau (VHL) disease, followed by a literature review. A 12-year-old boy presented with a left cerebellar hemangioblastoma and right eye blurred vision for 1–2 years. Fundus examination found no capillary hemangioblastoma lesion but a broad epiretinal fibrovascular membrane, which caused significant traction to the right macula. The genetic testing identified a pathogenic missense mutation (c. 223A > G) within the VHL gene, confirming VHL disease. RVP is a less common, poorly understood condition that can occur in VHL disease apart from the typical retinal capillary hemangioblastoma. The surface vasculature of the fibrovascular membrane regressed over an observation period of 3 years, and pars plana vitrectomy was eventually conducted at the age of 15 years to remove the fibrovascular membrane. Nevertheless, his visual acuity remained at 20/200 at postoperative 1 year due to the development of cataracts. In our literature review, we analyzed 39 reported cases of RVP, of which 90% had unilateral lesions, 70% had lesions at the juxtapapillary location, and 50% had a visual acuity <20/40. The mean onset age was 24 years. An intervention was performed in 39% of the cases and 78% experienced improved vision posttreatment. In conclusion, RVP likely starts as mainly vascular proliferation and eventually regresses spontaneously to fibrotic tissue formation. Unlike typical retinal capillary hemangioblastoma, vision can improve after an intervention, even in eyes with juxtapapillary lesions.
| Type: | Article |
|---|---|
| Title: | Retinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.4103/tjo.TJO-D-24-00116 |
| Publisher version: | https://doi.org/10.4103/tjo.tjo-d-24-00116 |
| Language: | English |
| Additional information: | This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License (http://creativecommons.org/licenses/by-nc-sa/4.0/), which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
| Keywords: | Retinal vascular proliferation, fibrovascular proliferation, retinal capillary hemangioblastoma, retinal neovascularization, von Hippel–Lindau disease |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10206420 |
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