Genotype–Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes
This was one of the largest cohorts reviewed from North America, expanding the variant spectrum in FEVR. Among the eyeGENE FEVR patients, disease-associated variants in Norrin/β-catenin signaling pathway genes can explain one-third of the cohort. LRP5 and FZD4 variants were the most common. The genotype-phenotype correlations supported the phenotypic variability in FEVR.
Authors
- Ehsan Ullah (ORCID: https://orcid.org/0000-0003-0107-6608)
- Fulya Yaylacıoğlu Tuncay (ORCID: https://orcid.org/0000-0002-2088-3416)
- Melissa Reeves (ORCID: https://orcid.org/0000-0003-2022-4282)
- Kerry Goetz (ORCID: https://orcid.org/0000-0002-9821-7704)
- Sairah Yousaf
- Santa J. Tumminia (ORCID: https://orcid.org/0000-0003-2940-444X)
- Bin Guan (ORCID: https://orcid.org/0000-0001-5986-5189)
- Robert B. Hufnagel (ORCID: https://orcid.org/0000-0003-3015-3545)
Institutions
- National Institutes of Health (US)
- Kaiser Permanente (US)
- Office of the Director (US)
- Sağlık Bilimleri Üniversitesi (TR)
- National Eye Institute (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1167/iovs.66.2.9
- Citations
- 2
- Primary Topic
- Wnt/β-catenin signaling in development and cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Institutes of Health