September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Characteristics, Management, and Outcomes of Von Hippel-Lindau Syndrome in a Tertiary Care Center
Author Affiliations & Notes
  • Eric Liss
    Ophthalmology, University of Virginia Department of Ophthalmology, Charlottesville, Virginia, United States
  • Yevgeniy Shildkrot
    Ophthalmology, University of Virginia Department of Ophthalmology, Charlottesville, Virginia, United States
  • Footnotes
    Commercial Relationships   Eric Liss, None; Yevgeniy Shildkrot, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 5905. doi:
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      Eric Liss, Yevgeniy Shildkrot; Characteristics, Management, and Outcomes of Von Hippel-Lindau Syndrome in a Tertiary Care Center. Invest. Ophthalmol. Vis. Sci. 2016;57(12):5905.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Von Hippel-Lindau Syndrome (VHL) is a rare familial condition characterized by aberrant intraocular and systemic vascular proliferation. While both life and vision threatening, the low prevalence and extended disease course of VHL has resulted in a relative lack of quantitative and longitudinal clinical data. This study, a multi-decade quantitative assessment of visual prognosis and clinical course, serves to provide objective data to clinicians treating VHL.

Methods : Retrospective review of patients treated at a tertiary care eye center with a diagnosis of VHL resulted in 42 eyes in 21 patients identified over a 15-year period. Descriptive statistics and hypothesis testing were used to analyze changes in visual acuity, use of particular therapeutic interventions, and prevalence and anatomic location of retinal tumors, neovascularization (NV), epiretinal membrane (ERM) formation, and retinal detachments (RD).

Results : Mean initial visual acuity (VA) was 0.465 logMAR (Snellen 20/60) with a final mean VA of 0.58 logMAR (20/80) in a strongly bimodal distribution. Mean follow up time was 4.85 years [range 0-14]. A total of 46 ocular tumors were present in 16 (76.2%) patients. Tumors were present bilaterally in 9 (56.2%) patients. 21 tumors (45.7%) were located in the periphery, 10 (21.7%) in the optic nerve head, and 7 (15.2%) in the macula. 8 (17.4%) were in multiple or unidentified locations. Other complications included RD in 6 (28.6%), NV in 5 (23.8%), and ERM or macular hole formation in 5 (23.8%) patients. Treatments included laser therapy in 10 (57.1%) and intravitreal bevacizumab in 4 (19.0%) patients. Eyes with vascular tumors had significantly worse VA than unaffected eyes (p=0.03). Bilateral disease was also independently associated with significantly worse VA (p=0.045).

Conclusions : Von Hippel-Lindau Syndrome is a life and vision threatening disease that is strongly associated with high levels of retinal tumor proliferation and secondary complications such as neovascularization, retinal detachment, and epiretinal fibrosis. Affected eyes have significantly worse vision than unaffected eyes. Bilateral disease was present in a majority of patients, with the most common tumor site being the mid-periphery followed by the optic nerve head. Common treatments included retinal laser and bevacizumab injections. More study is needed to establish data driven, definitive treatment protocols.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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