Associated Papers
Sorsby Pseudoinflammatory Fundus Dystrophy.
Hartung KJ et al.
Advances in Experimental Medicine and Biology, 2025
Human iPSC-based disease modeling studies identify a common mechanistic defect and potential therapies for AMD and related macular dystrophies.
Dalvi S et al.
Developmental Cell, 2024
Tissue Inhibitor of Metalloproteinase 3 (TIMP3) mutations increase glycolytic activity and dysregulate glutamine metabolism in RPE cells.
Grenell A et al.
Molecular Metabolism, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
CFH Haploinsufficiency and Complement Alterations in Early-Onset Macular Degeneration.
Lim RR et al.
Investigative Ophthalmology & Visual Science, 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
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.
Hristova R et al.
Nepalese Journal of Ophthalmology : a Biannual Peer-reviewed Academic Journal of the Nepal Ophthalmic Society : Nepjoph, 2024
Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.
Betts JHJ et al.
Molecular Vision, 2024
Deglycosylation Increases the Aggregation and Angiogenic Properties of Mutant Tissue Inhibitor of Metalloproteinase 3 Protein: Implications for Sorsby Fundus Dystrophy.
Qi JH et al.
International Journal of Molecular Sciences, 2022
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
Human pluripotent stem cells for the modelling of retinal pigment epithelium homeostasis and disease: A review.
Hall JC et al.
Clinical & Experimental Ophthalmology, 2022
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium.
Engel AL et al.
Experimental Eye Research, 2022
LONG-TERM VISUAL ACUITY PRESERVATION IN SORSBY FUNDUS DYSTROPHY WITH CORTICOSTEROID TREATMENT.
Spaide RF
Retinal Cases & Brief Reports, 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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N et al.
The British Journal of Ophthalmology, 2020
The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain.
Dewing JM et al.
Cells, 2019
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
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Gliem M et al.
Investigative Ophthalmology & Visual Science, 2015
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC et al.
Survey of Ophthalmology, 0