How 'eye' helped in von Hippel-Lindau syndrome

Eur J Ophthalmol. 2023 Jan;33(1):NP5-NP9. doi: 10.1177/11206721211035632. Epub 2021 Jul 24.

Abstract

Background: Von Hippel-Lindau syndrome is a rare autosomal dominantly inherited multisystemic oncologic syndrome, presenting predominantly with angiomatosis in embryologically similar neurologic tissue such as retina, cerebellum and adrenals. Retinal hemangioblastomas are the hallmark ophthalmic finding. In this case report, we describe the importance of timely diagnosis, thorough systemic examination and treatment of bilaterally asymmetrical retinal hemangioblastomas in a young adult male.

Case presentation: A 31-year-old male presented with painless diminution of vision in both eyes, associated with eyestrain and headache. Multiple asymmetric retinal lesions and dilated feeder vessels were noted on ophthalmoscopic examination and confirmed by fluorescein angiography to be retinal hemangioblastomas. Comprehensive systemic examination revealed cerebellar hemangioblastomas and multiple pancreatic and renal cysts. Treatment of retinal lesions was done by combination therapy of argon laser photocoagulation and cryopexy, which lead to a good visual outcome. Subsequently, neurosurgical resection of cerebellar hemangioblastoma proved to be lifesaving for the patient.

Conclusion: RHBs are the earliest, easiest and the most frequently detected manifestation of VHL. Identification of ocular manifestations play a pivotal role in early diagnosis and timely intervention in VHL syndrome, thereby significantly reducing associated morbidity and mortality. Therefore, an ophthalmologist's role is crucial in the management of these potentially deadly tumours.

Keywords: Von Hippel-Lindau syndrome; retinal hemangioblastoma.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebellar Neoplasms* / diagnosis
  • Cerebellar Neoplasms* / surgery
  • Eye
  • Fluorescein Angiography
  • Hemangioblastoma* / diagnosis
  • Hemangioblastoma* / pathology
  • Hemangioblastoma* / surgery
  • Humans
  • Male
  • Retinal Neoplasms* / diagnosis
  • Retinal Neoplasms* / surgery
  • Young Adult
  • von Hippel-Lindau Disease* / complications
  • von Hippel-Lindau Disease* / diagnosis
  • von Hippel-Lindau Disease* / pathology