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June 24, 2021

Exudative Retinal Telangiectasia Associated With Leri-Weill Dyschondrosteosis

Author Affiliations
  • 1Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania
  • 2Pennsylvania Retina Specialists, Camp Hill
JAMA Ophthalmol. 2021;139(8):914-915. doi:10.1001/jamaophthalmol.2021.1856

Coats disease is a developmental retinal vascular anomaly, characterized by predominantly unilateral peripheral retinal telangiectasia, nonperfusion, and aneurysmal changes with fluid and lipoprotein exudation.1 However, presentations of exudative retinal telangiectasias, often termed Coats-like retinopathies, can be observed in patients with certain systemic conditions, such as facioscapulohumeral dystrophy and telomere abnormalities.2,3 We report a novel observation of retinal vasculopathy in a patient with Leri-Weill dyschondrosteosis (LWD), a skeletal dysplasia associated with short-stature homeobox (SHOX) gene sequence variations.

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