top of page

Paediatric Ophthalmology

Case 2


Patient Presentation: An 8-year-old asymptomatic male patient was referred by an optometrist for an atypical optic nerve OD. The patient denied visual field deficits, flashes or floaters. Visual acuity was 20/20 OU; IOP was WNL.

OCT RNFL and macula imaging was conducted and is shown below:



Question 1: What is the best description of the OCT macula?

The fundus findings are shown below:


Question 2: Based on the fundus photograph and OCT imaging, what is the most likely diagnosis?

Question 3: What is the urgent next step for this patient?

Question 4: What type of disease is this?


Chowaniec MJ, Suh DW, Boldt HC, Stasheff SF, Beer PM, Barry GP. Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation. J AAPOS. 2015 Apr;19(2):175-7. Doi: 10.1016/j.jaapos.2014.09.019. Epub 2015 Mar 28. PMID: 25828823.


Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. Neuroradiology. 2007 May;49(5):445-56. Doi: 10.1007/s00234-006-0205-x. Epub 2007 Jan 18. PMID: 17235577.


Ravani R, Patel C, Tripathy K. Optical coherence tomography of racemose angioma. Clin Case Rep. 2020 Apr 12;8(7):1299-1300. Doi: 10.1002/ccr3.2841. PMID: 32695379; PMCID: PMC7364105.


So JM, Mishra C, Holman RE. Wyburn-Mason Syndrome. [Updated 2022 Jun 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from:

Learning Objectives:

  1. Recognize the presentation and differential diagnoses of neurocutaneous disorders.

  2. Identify the urgent investigations for Wyburn-Mason Syndrome.

bottom of page