DIAGNOSING VON HIPPEL LINDAU DISEASE BY RETINAL CAPILLARY HAEMANGIOBLASTOMAS

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Vol 5 No 2 (2022): International Journal of Retina (IJRetina) - INAVRS
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Published Sep 27, 2022
DOI: https://doi.org/10.35479/ijretina.2022.vol005.iss002.194

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Yurike Mandrasari
Department of Ophthalmology
Wino Vrieda Vierlia
Department of Ophthalmology
Andhika Yudistira
Department of Orthopaedics
Nadia Artha Dewi
Department of Ophthalmology

Abstract

Introduction: Von Hippel-Lindau (VHL) syndrome is a disease characterized by the formation of tumors or cysts in many different parts of the body caused by germline. The prevalence of this autosomal dominant condition is very rare. Understanding of clinical manifestasion and diagnostic criteria is needed.


Case Report: Female, 22-year-old was reffered from orthopaedic department suffered from blurred and misalignment of the left eye since 3 months ago . Based on indirect funduscopy examination, we found  disc swelling with exudative retinal detachment on her left eye and orange-reddish retinal mass concluded as Retinal Capillary Hemangioblastoma (RCH) with tortuosity and dilatation of blood vessel on her right eye. The MRI showed multiple masses in cervical to lumbar vertebrae and multiple cyst on pancreatic gland.


Discussion: This patient had 1 ocular RCH, multiple spinal tumor and multiple pancreatic cysts with no confirmed family history, therefore almost fulfilling the diagnostic criteria of VHL. To further confirm the diagnosis, it was necessary to find other common comorbids of VHL such as gene testing of VHL heterozygous germline mutation. Interdisciplinary approach consists of not only diagnostic and treatment plans from one speciality department, but also the ones from other related divisions and departments.


Conclusion: Screening and interdiciplinary approach in managing Von Hippel-Lindau syndrome are required to be performed promptly.

Keywords

Von Hippel-Lindau syndrome, retinal capillary hemangioma, multiple spinal massses, multiple cyst on pancreas gland

Article Details

How to Cite
MANDRASARI, Yurike et al. DIAGNOSING VON HIPPEL LINDAU DISEASE BY RETINAL CAPILLARY HAEMANGIOBLASTOMAS. International Journal of Retina, [S.l.], v. 5, n. 2, sep. 2022. ISSN 2614-8536. Available at: <https://ijretina.com/index.php/ijretina/article/view/194>. Date accessed: 22 jan. 2025. doi: https://doi.org/10.35479/ijretina.2022.vol005.iss002.194.
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Vol 5 No 2 (2022): International Journal of Retina (IJRetina) - INAVRS
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Case Report
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References

1. Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N, et al. Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome. The Journal of Clinical Endocrinology & Metabolism. 2015;100(12):4498-504.
2. Kanski JJ, Bowling B. Clinical ophthalmology: a systematic approach: Elsevier Health Sciences; 2011.
3. Ganeshan D, Menias CO, Pickhardt PJ, Sandrasegaran K, Lubner MG, Ramalingam P, et al. Tumors in von Hippel–Lindau Syndrome: From head to toe—comprehensive state-of-the-art review. RadioGraphics. 2018;38(3):849-66.
4. Schmid S, Gillessen S, Binet I, Brändle M, Engeler D, Greiner J, et al. Management of von hippel-lindau disease: an interdisciplinary review. Oncology research and treatment. 2014;37(12):761-71.
5. Chittiboina P, Lonser RR. von Hippel–Lindau disease. Handbook of clinical neurology: Elsevier; 2015. p. 139-56.
6. Loo SF, Justin NK, Lee RA, Hew YC, Lim KS, Tan CT. Differentiating extensor plantar response in pathological and normal population. Annals of Indian Academy of Neurology. 2018;21(2):144.
7. Gaudric A, Krivosic V, Duguid G, Massin P, Giraud S, Richard S. Vitreoretinal surgery for severe retinal capillary hemangiomas in von Hippel–Lindau disease. Ophthalmology. 2011;118(1):142-9.
8. Chen Y, Liu H, Zhang K, Gao L. Massive exudative retinal detachment following photodynamic therapy for retinal hemangioma in von Hippel–Lindau Syndrome. Photodiagnosis and photodynamic therapy. 2014;11(2):250-3.
9. Yunus Amran M, Hasmawaty B, Kurnia Bintang A, Akbar M. A robust allegation of von Hippel-Lindau (VHL) associated haemangioblastoma in the central nervous system (CNS): A case report. 2014.
10. Hasan N, Chawla R, Kumar A. Optic Disc Hemangioblastoma with Papilledema in a Case of Von Hippel-Lindau Disease. Ophthalmology Retina. 2019;3(9):733.
11. Jorge R. Retinal Hemangiomas. 2017;Neuro-Ophthalmology, Vitreoretinal:1.
12. Chelala E, Dirani A, Fadlallah A. Intravitreal anti-VEGF injection for the treatment of progressive juxtapapillary retinal capillary hemangioma: a case report and mini review of the literature. Clinical ophthalmology (Auckland, NZ). 2013;7:2143.
13. Gunduz GU, Gelisken O, Yalcinbayir O, Guler K. Laser photocoagulation, intravitreal anti-VEGF, and vitreous surgery for the treatment of juxtapapillary retinal capillary hemangioma. Indian journal of ophthalmology. 2019;67(12):2104.
14. Francis JH, Slakter JS, Abramson DH, Odrich SA, Gobin YP. Treatment of juxtapapillary hemangioblastoma by intra-arterial (ophthalmic artery) chemotherapy with bevacizumab. American journal of ophthalmology case reports. 2018;11:49-51.