Associated Papers
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Vergaro A et al.
International Journal of Molecular Sciences, 2024
38612555 (PubMed )
Supplement: ijms-25-03744-s001.zip › ijms-2892729-supplementary.pdf
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
DeBenedictis MJ et al.
Ophthalmic Genetics, 2020
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism.
Qi JH et al.
Scientific Reports, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Naessens S et al.
Human Mutation, 2019
Sorsby fundus dystrophy: Insights from the past and looking to the future.
Anand-Apte B et al.
Journal of Neuroscience Research, 2019
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