Coats-Like Presentation of Familial Exudative Vitreoretinopathy Associated With a Novel LRP5 Variant.
Ophthalmic Surg Lasers Imaging Retina
; 55(8): 462-466, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-38752919
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;55462-466.].
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Fluorescein Angiography
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Low Density Lipoprotein Receptor-Related Protein-5
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Familial Exudative Vitreoretinopathies
Limits:
Child
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Female
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Humans
Language:
En
Journal:
Ophthalmic Surg Lasers Imaging Retina
Year:
2024
Document type:
Article
Country of publication: