Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.
Eur J Ophthalmol
; 34(5): NP8-NP12, 2024 Sep.
Article
de En
| MEDLINE
| ID: mdl-38720524
ABSTRACT
PURPOSE:
This report aims to delineate distinct phenotypes of Familial Exudative Vitreoretinopathy (FEVR) observed in a mother and her daughter, both harboring a novel LRP5 pathogenic variation.METHODS:
The investigation involves a retrospective review of medical records accompanied by multimodal imaging. Molecular characterization was performed using whole exon sequencing, and the pathogenic variant was subsequently confirmed through Sanger sequencing.RESULT:
A 6-year-old girl diagnosed with anisometropic amblyopia exhibited macular dragging and peripheral avascular retina in her right eye. Whole exon sequencing identified a previously unreported heterozygous missense LRP5 pathogenic variation, Glu528Lys. Simultaneously, her 43-year-old mother also carried the same mutation, manifesting peripheral exudations, avascular areas, and multiple microaneurysms. Notably, both cases presented distinctive phenotypes of FEVR.CONCLUSION:
Our findings underscore the diversity in clinical presentations associated with FEVR, emphasizing the pivotal role of genetic evaluation. Despite variations in severity between the eyes of the same patient, it is crucial to remain vigilant for potential progression to a pathological status in the seemingly normal eye. Additionally, this study contributes to expanding the genetic spectrum of FEVR.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Pedigree
/
Phénotype
/
Angiographie fluorescéinique
/
Tomographie par cohérence optique
/
Protéine-5 apparentée au récepteur des LDL
/
Vitréorétinopathies exsudatives familiales
Limites:
Adult
/
Child
/
Female
/
Humans
Langue:
En
Journal:
Eur J Ophthalmol
/
Eur. j. ophthalmol
/
European journal of ophthalmology
Sujet du journal:
OFTALMOLOGIA
Année:
2024
Type de document:
Article
Pays d'affiliation:
Taïwan
Pays de publication:
États-Unis d'Amérique