Coats-Like Presentation of Familial Exudative Vitreoretinopathy Associated With a Novel LRP5 Variant
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...
| Veröffentlicht in: | Ophthalmic surgery, lasers & imaging retina. - 2013. - 55(2024), 8 vom: 26. Aug., Seite 462-466 |
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| Weitere Verfasser: | , , , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2024
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| Zugriff auf das übergeordnete Werk: | Ophthalmic surgery, lasers & imaging retina |
| Schlagworte: | Case Reports Journal Article Low Density Lipoprotein Receptor-Related Protein-5 LRP5 protein, human ZNF408 protein, human DNA-Binding Proteins Transcription Factors |
| Zusammenfassung: | 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.] |
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| Beschreibung: | Date Completed 16.08.2024 Date Revised 27.08.2024 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 2325-8179 |
| DOI: | 10.3928/23258160-20240410-02 |