Ocular Oncology

Case 6

Patient Presentation: A 59-year-old male was referred to an ophthalmology service due to decreased vision in his left eye over the past 5 months. The patient had brain surgery for a cerebellar tumour last year. On assessment, his visual acuity was 20/30-1 OD and 20/350+2 OS. IOP was 16 OD and 18 OS. Slit lamp examination demonstrated early cataracts. Fundus photographs, fundus autofluorescence, and OCT macula OU were obtained and shown below:

OD

OS

Question: Which option correctly matches the OCT findings in both eyes?

Question: Based on the multi-modal imaging provided, what is the most likely diagnosis?

Question: What is the most likely systematic diagnosis in this patient?

Question: Which of the following is recommended to manage this patient’s retinal hemangioblastomas and VHL disease?

References: 

1.    Shields CL, Manalac J, Das C, Saktanasate J, Shields JA. Review of spectral domain enhanced depth imaging optical coherence tomography (EDI-OCT) of tumors of the retina and retinal pigment epithelium in children and adults. Ind J Ophthalmol. 2015;63(2):128-132. 
2.    Choudhry N, Golding J, Rao RC. Widefield Swept-Source OCT of Retinal Capillary Hemangioblastoma. Ophthalmol Retina. 2017 Jul-Aug;1(4):321.
3.    Sen M, Shields CL, Honavar SG, Shields JA. Coats disease: An overview of classification, management and outcomes. Indian J Ophthalmol. 2019;67(6):763-771. doi:10.4103/ijo.IJO_841_19
4.    Alnawaiseh, M., Schubert, F., Nelis, P. et al. Optical coherence tomography (OCT) angiography findings in retinal arterial macroaneurysms. BMC Ophthalmol 16, 120 (2016). 
5.    van Leeuwaarde RS, Ahmad S, Links TP, et al. Von Hippel-Lindau Syndrome. 2000 May 17 [Updated 2018 Sep 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.  
6.    Singh AD, Nouri M, Shields CL, et al. Treatment of retinal capillary hemangioma. Ophthalmology. 2002;109(10);1799-1806.
7.    Schmid S, Gillessen S, Binet I, Brändle M, Engeler D, Greiner J, Hader C, Heinimann K, Kloos P, Krek W, Krull I, Stoeckli SJ, Sulz MC, van Leyen K, Weber J, Rothermundt C, Hundsberger T. Management of von hippel-lindau disease: an interdisciplinary review. Oncol Res Treat. 2014;37(12):761-71.

 

Learning Objectives:

  1. To identify features of von Hippel-Lindau (VHL) disease

  2. To identify treatments for retinal hemangioblastomas and VHL disease