Associated Papers
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
Genetic Insights into Age-Related Macular Degeneration.
Bhumika et al.
Biomedicines, 2024
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
Potential CRISPR Base Editing Therapeutic Options in a Sorsby Fundus Dystrophy Patient.
Elsayed MEAA et al.
Genes, 2022
Treatment of Sorsby fundus dystrophy with anti-tumor necrosis factor-alpha medication.
Spaide RF
Eye (london, England), 2022
In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy.
Hongisto H et al.
The Journal of Pathology, 2020
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
DeBenedictis MJ et al.
Ophthalmic Genetics, 2020
The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain.
Dewing JM et al.
Cells, 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
Sorsby fundus dystrophy - A review of pathology and disease mechanisms.
Christensen DRG et al.
Experimental Eye Research, 2017
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Meunier I et al.
Scientific Reports, 2016
A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration.
Warwick A et al.
Eye (london, England), 2016
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.
Blain D et al.
Clinical Genetics, 2013
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.
Schoenberger SD et al.
Retina (philadelphia, Pa.), 2013
Latest Development on Genetics of Common Retinal Diseases.
Chen LJ et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC et al.
Survey of Ophthalmology, 0