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Ophthalmic Images
October 8, 2020

Exuberant Epipapillary Fibrosis in Williams Syndrome

Author Affiliations
  • 1Department of Ophthalmology, Mayo Clinic College of Medicine, Rochester, Minnesota
  • 2Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota
JAMA Ophthalmol. 2020;138(10):e201409. doi:10.1001/jamaophthalmol.2020.1409

A 28-year-old man with Williams syndrome had visual acuity of 20/20 OU. An optic disc examination showed pseudopapilledema with exuberant epipapillary fibrosis in both eyes (Figure). Williams syndrome is an autosomal dominant neurodevelopmental disorder characterized by the deletion of 26 to 28 contiguous genes on chromosome 7q11.23, including elastin (ELN),1 which may help to explain this unique phenotype. Salient features include an elfin facies, an outgoing and engaging personality, connective tissue abnormalities with supravalvular aortic stenosis, a stellate iris pattern, and strabismus.

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