Background: Hemangioblastoma typically occurs in the cerebellum, spinal cord, and central nervous system. However, in rare cases, it could occur in the retina or optic nerve. The prevalence of retinal hemangioblastoma is 1 in 73080, and it occurs either alone or as the manifestation of von Hippel Lindau (VHL) disease. Here, we reported a rare case with the imaging features of retinal hemangioblastoma without VHL syndrome, along with the relevant literature review.
Case Summary: A 53-year-old man had progressive swelling, pain and blurred vision in the left eye without obvious inducement for 15 d. Ultrasonography revealed a possible optic nerve head melanoma. Computed tomography (CT) showed punctate calcification on the posterior wall of the left eye ring and small patchy soft tissue density in the posterior part of the eyeball. Magnetic resonance imaging showed slightly hyperintense signal on T1-weighted images and slightly hypointense-to-isointense signal on T2-weighted images at the medial and posterior edges of the left eyeball, a significant enhancement was observed in the contrast-enhanced scans. Positron emission tomography/CT fusion images showed that the glucose metabolism of the lesion was normal. Pathology was consistent with hemangioblastoma.
Conclusion: Early identification of retinal hemangioblastoma based on imaging features is of great value for its personalized treatment.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923853 | PMC |
http://dx.doi.org/10.12998/wjcc.v11.i3.692 | DOI Listing |
Retin Cases Brief Rep
May 2024
Retina Vitreous Consultants.
Purpose: To demonstrate the response of a juxtapapillary retinal hemangioblastoma (JRH) to belzutifan in a patient with Von-Hippel-Lindau syndrome (VHL).
Methods: This case report includes fundus photography and optical coherence tomography to compare a juxtapapillary retinal hemangioblastoma (JRH) before and 24 months after treatment with belzutifan.
Results: An 18-year-old woman with VHL was diagnosed with a juxtapapillary retinal hemangioblastoma (JRH) at age 13.
J Kidney Cancer VHL
December 2024
Department of Urology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
Von Hippel-Lindau (vHL) is a hereditary disease characterized by the development of benign and malignant tumors across multiple organ systems. It is seen in approximately 1 in 36,000 live births. Given that vHL is a rare disease, studies that seek to characterize vHL are often hampered by small sample sizes.
View Article and Find Full Text PDFJ Kidney Cancer VHL
November 2024
Department of Medicine IV - Nephrology and Primary Care, University of Freiburg, Germany.
Early identification of patients at risk with von Hippel-Lindau (VHL) syndrome-related pheochromocytoma and paraganglioma (PPGL) is crucial to prevent morbidity. We investigated the current surveillance recommendations in VHL-related PPGL in children and adolescents. German Pediatric Oncology and Hematology-Malignant Endocrine Tumor registry (GPOH-MET) and Freiburg-VHL registry (1996-2022).
View Article and Find Full Text PDFOphthalmol Retina
October 2023
Division of Ophthalmology, Seattle Children's Hospital, Seattle, WA, 98105; Department of Ophthalmology and Roger and Karalis Johnson Retina Center, University of Washington, Seattle, WA, 98109; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195. Electronic address:
BMJ Case Rep
November 2024
Ophthalmology, Mata Gujri Memorial Medical College and LSK Hospital, Kishanganj, Bihar, India.
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