Longitudinal Analysis of Retinal Hemangioblastomatosis and Visual Function in Ocular von Hippel Lindau Disease

Publication Type
Conference Paper
Year of Publication
Toy, BC; Agron, E; Nigam, DL; Chew, EY; Wong, WT
Association for Research in Vision and Ophthalmology - ARVO
Date Published
Ft. Lauderdale, FL
clinical (human) or epidemiologic studies; natural history; retina; tumors
Purpose: We aimed to characterize the long-term anatomic and visual function changes associated with ocular VHL disease in patients examined at the National Eye Institute/National Institutes of Health. The results of this study may be useful in providing clinical guidance for the management of persons with ocular VHL disease. Methods: Patients with clinical or genetic evidence of VHL disease and at least 2 years of ophthalmic follow-up were identified and their ophthalmic records retrospectively analyzed. Univariate statistical analysis and logistic regression were performed using custom Matlab scripts and SAS. Results: Of 249 patients at study baseline, 154 (62%) had evidence of ocular VHL in at least one eye (29% unilateral, 33% bilateral). Of 498 eyes analyzed, 236 eyes (47%) were affected by VHL disease at baseline. Longitudinal analyses over a mean follow up period of 8.2±4.0 years revealed that 50 out of 167 at-risk participants (30%) developed new ocular VHL in a previously unaffected eye during follow-up. Of 262 eyes without ocular involvement at baseline, 58 eyes (22%) developed new ocular involvement. In eyes with existing ocular involvement at baseline, 6% developed angiomas in a new retinal location (juxtapapillary or peripheral), 20% increased in peripheral angioma number (from ≤3 to >3), 19% increased in the extent of peripheral retinal involvement (from ≤1 to >1 quadrant), and 7% progressed to end-stage disease. Significant decreases in mean ETDRS visual acuity were found in eyes developing angiomas in a new retinal location (-6.1 letters; p=0.04, paired t-test), developing new juxtapapillary angiomas (-11.4 letters; p=0.005), developing new peripheral angiomas (-4.3 letters; p=0.02), increasing in peripheral angioma number (-12.5 letters; p=0.002), or increasing in peripheral involvement (-7.6 letters; p=0.004). Conclusions: The overall rate of developing new ocular VHL disease in patients with VHL disease was relatively slow. A majority of eyes that were without ocular VHL at baseline did not acquire ocular involvement during follow-up. Eyes with existing ocular VHL disease also demonstrated relative stability with a minority of eyes showing increases in measures of angioma burden during follow up. Increasing angioma burden, particularly the development of new juxtapapillary angiomas, was associated with a significant long-term worsening of visual acuity.