Revision of Initial Referral Diagnosis after Genotypic Confirmation of Familial Exudative Vitreoretinopathy

Ophthalmol Retina. 2024 Oct;8(10):1029-1031. doi: 10.1016/j.oret.2024.06.010. Epub 2024 Jun 25.

Authors

Julia L Hudson¹, Natasha F S da Cruz¹, Anne L Kunkler¹, Piero Carletti¹, Catherin I Negron¹, Audina M Berrocal²

Affiliations

¹ Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
² Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida. Electronic address: [email protected].

PMID: 38936772
DOI: 10.1016/j.oret.2024.06.010

No abstract available

Keywords: Familial exudative vitreoretinopathy; Pediatric retina; Peripheral avascularity.

Publication types

Case Reports

MeSH terms

DNA / genetics
DNA Mutational Analysis
Eye Diseases, Hereditary / diagnosis
Eye Diseases, Hereditary / genetics
Familial Exudative Vitreoretinopathies* / diagnosis
Female
Fluorescein Angiography / methods
Genotype*
Humans
Male
Mutation
Pedigree
Referral and Consultation*
Retinal Diseases* / diagnosis
Retinal Diseases* / genetics

Substances

DNA