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Retina

New guidelines for the retinal surveillance of patients with VHL disease presented

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New evidence guidelines for retinal surveillance of patients with von Hippel-Lindau (VHL) include earlier screening with increased frequency in the first decades of life, as well as increased use of widefield imaging and proactive treatment of small lesions, according to a poster presented at AAO 2020 Virtual.

The Ophthalmology Subcommittee of the International VHL Surveillance Guidelines Consortium of >50 VHL experts generated 7 questions about the timing and methodology of retinal screening for VHL before conducting a literature review.

Recommendations include:

  • Individuals with known or suspected VHL disease should undergo periodic ocular screening with dilated ophthalmoscopy.
  • Patients at risk for VHL…should have genetic testing of the VHL gene as part of an appropriate medical evaluation. ‘At-risk’ children should be tested early in life.
  • Patients should be managed, whenever possible, by those with subspecialty training and/or with experience with VHL disease/retinal hemangioblastoma and ideally within the context of a multidisciplinary center capable of providing multi-organ surveillance and access to genetic testing.

Additional recommendations include screening in the first 6 to 12 months of birth and continuing throughout life, performing dilated fundus examinations every 6-12 months up to age 30, and performing ocular screening before a planned pregnancy.

Reference
Daniels AB, et al. The New 2020 Guidelines for Retinal Surveillance of Patients With VHL Disease: A New Approach. Presented at: AAO 2020 Virtual.

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