Coats-Like Presentation of Familial Exudative Vitreoretinopathy Associated With a Novel LRP5 Variant

• Published in: Ophthalmic surgery, lasers & imaging retina Vol. 55; no. 8; p. 462
• Main Authors: López-Font, Francisco J, Shah, Serena M, Lin, Benjamin R, Cruz, Natasha Ferreira Santos da, Sengillo, Jesse D, Berrocal, Audina M
• Format: Journal Article
• Language: English
• Published: United States 01-08-2024
• Subjects: Child; DNA-Binding Proteins; Eye Diseases, Hereditary - diagnosis; Eye Diseases, Hereditary - genetics; Familial Exudative Vitreoretinopathies - diagnosis; Female; Fluorescein Angiography - methods; Fundus Oculi; Humans; Low Density Lipoprotein Receptor-Related Protein-5 - genetics; Mutation; Pedigree; Retinal Telangiectasis - diagnosis; Retinal Telangiectasis - genetics; Tomography, Optical Coherence - methods; Transcription Factors
• ISSN: 2325-8179
• DOI: 10.3928/23258160-20240410-02

This report describes a unique case of a Coats-like presentation of familial exudative vitreoretinopathy in an 11-year-old girl. The patient was originally referred for evaluation of presumed Coats disease and presented with telangiectatic vessels, perivascular exudates, diffuse peripheral exudation, and intraretinal hemorrhages. Clinical and angiographical findings were consistent with familial exudative vitreoretinopathy, while genetic testing identified variants of uncertain significance in two associated genes,
and
. In silico analysis predicts the
variant to be pathogenic. Retinal vasculopathies often have phenotypic overlap, warranting angiographic examination of both eyes and genetic testing to uncover the correct diagnosis and guide proper treatment.
.