Case Report: What’s in a Name?

Timothy Bennett, CRA, OCT-C, FOPS

Penn State Eye Center, Hershey, Pennsylvania, USA

Purpose: Case report of a young patient with retinal arterial venous malformations suggestive of Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome.

Methods: Wyburn-Mason syndrome (WMS) is a rare nonhereditary congenital disease characterized by abnormal arteriovenous anastomoses involving both the retina and midbrain. Similar arteriovenous malformations can also occur in the orbit, and less commonly in the face, skin, maxilla, or mandible. Here we present a case with striking retinal features documented with multimodal imaging including SD-OCT, fundus photography, monochromatic fundus photography, c-SLO IR, autofluorescence and blue reflectance.

Results: A 9 year old girl was referred for a comprehensive eye exam by her school nurse after failing a vision screening in the left eye. Upon presentation, the patient had no visual complaints. Visual acuity measured 20/20 OD and 20/100 OS. Examination of the left fundus revealed markedly dilated vascular loops consistent with a racemose hemangioma. The vascular loops extended from the optic nerve into the macula, as well as the nasal periphery.

Discussion: An association between arteriovenous malformations of the face, retina and brain was first reported in the French medical literature by Bonnet, Dechaume, & Blanc in 1937. In an extensive study six years later, British physician Roger Wyburn-Mason reviewed all previously reported cases and described nine additional examples. The condition became known as Bonnet- Dechaume-Blanc syndrome in continental Europe, and Wyburn-Mason syndrome in the British literature. Often these eponyms are used interchangeably, but sometimes Bonnet-Dechaume-Blanc syndrome is preferred for more severe cases with maxillofacial involvement.

Conclusion: Although the arteriovenous malformation of the left retina in this case fit the classic description of a racemose hemangioma, the absence of similar orbital, facial, or cerebral lesions does not meet the true classification of WMS. There is some thought that WMS may represent a continuous spectrum of disease and that partial manifestations of the syndrome such as this case are possible.

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ICOP 2023
Maaike van Zuilen

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