ArticleAJO international2025
Retinal detachment risk in a cohort of von hippel-lindau patients at a Major U.S. tertiary care facility.
Article in AJO international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: To report the retinal findings, cumulative incidence of retinal capillary hemangioblastoma (RCH), retinal detachment (RD) outcomes, and risk factors in a large cohort of von Hippel-Lindau (VHL) patients within a major U.S. Tertiary Care Facility. Design: A retrospective cohort study was conducted between January 2005 and August 2024. Methods: VHL patients were identified from Mass General Brigham's Research Patient Data Repository. Manual chart review confirmed those with ophthalmologic examinations. A nested 1:2 matched case-control study compared RD cases with controls (VHL patients with RCH but without RD). Kaplan-Meier analysis estimated cumulative RCH incidence, and conditional logistic regression identified RD risk factors. Patients without RCH were censored at the last follow-up. Results: Among 159 VHL patients, 104 had comprehensive eye examinations with a median follow-up of 7 years [IQR, 2-11]; 95% attended at least one follow-up appointment. The incidence rate of RCH was 2.3 per 100 person-years, calculated from person-time starting at birth and ending at age of first RCH diagnosis (for cases) or last follow-up visit (for non-cases). Eighteen eyes (14 patients, 13% of the cohort; 95% CI, 8%-22%) developed RD, predominantly combined rhegmatogenous/tractional (94%), with 29% bilateral involvement. Notably, no patient without an RCH developed an RD in our cohort. A case-control study found that each additional prior focal treatment significantly lowered the risk of RD (OR = 0.15, 95% CI 0.03-0.63; p = 0.01), while the presence of renal cell carcinoma and pancreatic cysts were associated with increased risk, possibly indicating more advanced systemic disease. All RD cases exhibited proliferative vitreoretinopathy (PVR; Grade C: 89%, Grade B: 11%) at the time of diagnosis. Overall, 12 of 16 eyes (75%) achieved reattachment, 11 of which (69%) required multiple surgeries (median, 2 [IQR, 1-3]), but visual outcomes remained poor (median final logMAR BCVA, 2.3 [IQR, 0.55-2.7], counting fingers). Conclusions: VHL patients face a high lifetime risk of RCH and associated RD. PVR frequently complicates the surgical treatment of RD and yields limited visual recovery, underscoring the need for proactive surveillance and timely therapeutic intervention. The universal presence of PVR in these RD eyes is a novel finding that warrants investigation into a possible, though currently speculative, molecular link to pVHL dysregulation.
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