The incidence of consecutive manifestations of VHL disease

Frantzen, Carlijn; Kruizinga, Roeliene C.; Sluiter, Wim J.; de, Vries E G E; Zonnenberg, Bernard A.; Lips, Cornelis J.M.; Walenkamp, Annemiek; van, der Horst-Schrivers Anouk N A; Links, Thera P.

doi:10.1530/endoabs.37.gp.29.06

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“…Retinal lesions are the earliest and most frequent manifestation (present in 49%-68% of cases), but the condition is also associated with life-threatening tumors, including renal cell carcinoma, pheochromocytoma, and cerebellar hemangioblastoma. 2 Oninvestigation,thispatientrevealedthatherfatherhasVHL,consistent with his history of retinal detachment. Genetic testing for a VHL gene mutation on chromosome 3 and retinal biopsy are not necessary in this case as multiple RCHs are diagnostic for VHL disease; however, genetic counseling may help this patient understand the risk to living relativesandoffspring.Genetictestingmaybeavaluablescreeningtool for patients with solitary lesions or a negative family history.…”

Section: Discussionsupporting

confidence: 53%

“…Approxi-mately20%ofVHLgenemutationsaresporadic.PatientswithVHLdisease and their relatives should be screened for ocular disease and biennial systemic evaluation should include magnetic resonance imaging of the brain, pancreas, and kidneys. 2 Lifelong annual screening is rec-ommendedinthosewithVHLdiseaseandVHLgenemutationcarriers. 3 The presence of at least 1 RCH increases the risk for decreased vision, with greatest vision loss found with both juxtapapillary and peripheral locations of RCHs.…”

Section: Discussionmentioning

confidence: 99%

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Headaches and Foggy Vision in a 21-Year-Old Woman

2016

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A 21-year-old woman presented with foggy vision of her right eye that began 5 months prior. She had daily frontal headaches without any associated visual aura, numbness, or weakness. She had a history of "multiple lasers" of her right eye and blindness of her left eye from an unrepaired retinal detachment. Her medical history included a pheochromocytoma, bilateral adrenal gland resection, and a pancreatic cyst. Her father had a history of retinal detachment in his right eye; her 2 siblings did not have any medical or ocular issues.Visual acuity was 20/200 OD and no light perception OS. Anterior segment examination was unremarkable in the right eye and revealed phthisis bulbi of the left eye. Dilated fundus examination of the right eye revealed prominent, engorged, and tortuous vessels with traction extending from the optic disc to the superior peripheral retina. There was an associated thick fibrotic epiretinal membrane extending from the macula to the superior peripheral retina. The retinal arterioles were attenuated and there was thickening of the macula with subretinal fluid found on optical coherence tomography. In the superior retinal periphery, there was an orange, round, circumscribed mass with overlying tractional retinal detachment and numerous other smaller orange masses (Figure 1A). Fluorescein angiography of her right eye showed early hyperfluorescence of the lesions with late leakage (Figure 1B).

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%