1. Coats-Like Presentation of Familial Exudative Vitreoretinopathy Associated With a Novel LRP5 Variant.
- Author
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López-Font FJ, Shah SM, Lin BR, Cruz NFSD, Sengillo JD, and Berrocal AM
- Subjects
- Humans, Female, Child, Retinal Telangiectasis diagnosis, Retinal Telangiectasis genetics, Tomography, Optical Coherence methods, Fundus Oculi, Mutation, Eye Diseases, Hereditary diagnosis, Eye Diseases, Hereditary genetics, Pedigree, DNA-Binding Proteins, Transcription Factors, Familial Exudative Vitreoretinopathies diagnosis, Low Density Lipoprotein Receptor-Related Protein-5 genetics, Fluorescein Angiography methods
- Abstract
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, LRP5 and ZNF408 . In silico analysis predicts the LRP5 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. [ Ophthalmic Surg Lasers Imaging Retina 2024;55:462-466.] .
- Published
- 2024
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