Papillomacular Bundle Hemangioblastoma in a 19-Year-Old Woman With VHL
We would like to present the case of a 19-year-old woman with a genetic diagnosis of VHL (c.250G>T, p.Val84Leu). The pathogenic variant was inherited from the patient’s father who suffered from pheochromocytoma and renal cell carcinoma (Figure 1).
The patient did not develop other manifestations of VHL until the age of 18 years in 2018, when she was diagnosed with a hemangioblastoma of the left eye. The lesion involves the disc and papillomacular bundle, measures 1.9 mm in diameter, and developed over a 9-month period, leading to mild visual loss (6/9) from intraretinal fluid. Treatment with monthly intralesional anti-VEGF injection was initiated on April 2019, but without apparent success after three sessions as reflected by lack of improvement in visual acuity; however, the plan is to complete the remaining three injections for a total of six cycles. The lesion imaging findings as of April 2019, which have not improved following the intervention, are shown in Figure 2.
Following input from the VHL community she has been started on propranolol, and the lesion is stable.
We would like to consult the VHL community on the case. Are there additional/other therapeutic interventions that may be offered to the patient?
Figure 1
Full pedigree of the patient’s family (the patient is marked with a white arrowhead).
Figure 2
The patient’s retinal examination findings in April 2019: Right eye ocular computed tomography (OCT) showing normal foveal contour (A); left eye OCT demonstrating hemangioblastoma and subretinal fluid in the papillomacular bundle (B); left optic nerve OCT (C); and left eye fundoscopy (D). The OCT shown for the left eye remained stable after three cycles of anti-VEGF injections.
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May 19, 2024
Pending Moderator approval.