ArticleScientific reports2016
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Temporal variation in markers of immune signaling and wound repair in primary human airway epithelial cells following acute versus repeated woodsmoke condensate exposure.Toxicological sciences : an official journal of the Society of Toxicology · 2026Article
- Disease-CausingInternational journal of molecular sciences · 2024Article
- The TIMP protein family: diverse roles in pathophysiology.American journal of physiology. Cell physiology · 2024Review
- Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.Molecular vision · 2024Review
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Sorsby fundus dystrophy (SFD): A narrative review.Medicine · 2022Review
- Treatment of Sorsby fundus dystrophy with anti-tumor necrosis factor-alpha medication.Eye (London, England) · 2022Article
- The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain.Cells · 2019Review
- The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.Human mutation · 2019Article
- Sorsby fundus dystrophy: Insights from the past and looking to the future.Journal of neuroscience research · 2019Review
- Reflections on the evolution of the vertebrate tissue inhibitors of metalloproteinases.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Review
- Matrix metalloproteinases in emphysema.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Molecular mechanism of miR-181b in heart disease due to pregnancy-induced hypertension syndrome.Experimental and therapeutic medicine · 2017Article
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Authors and funding
22 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon 5, in family 1 and c.113C > G, p.S38C, exon 1, in family 2). In family 1, all SFD patients older than 50 (two generations) had also a severe emphysema, despite no history of smoking or asthma. In the preceding generation, the mother died of pulmonary emphysema and she was blind after the age of 50. Her two great-grandsons (<20 years), had abnormal Bruch Membrane thickness, a sign of eye disease. In family 2, eye and lung diseases were also associated in two generations, both occurred later, and lung disease was moderate (bronchiectasis). This is the first report of a syndromic SFD in line with the mouse model uncovering the role of TIMP3 in human lung morphogenesis and functions. The TIMP3 gene should be screened in familial pulmonary diseases with bronchiectasis, associated with a medical history of visual loss. In addition, SFD patients should be advised to avoid tobacco consumption, to practice sports, and to undergo regular pulmonary examinations.
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