Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Investigative Ophthalmology & Visual Science
Martin GliemPeter Charbel Issa

Abstract

To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus dystrophy (SFD), including a novel early sign for the disease and to report the effect of anti-VEGF therapy. Twenty-one probands of three unrelated families with SFD were investigated using wide-field imaging, confocal laser scanning ophthalmoscopy with autofluorescence imaging, optical coherence tomography (OCT), indocyanine green-angiography (ICG-A), and molecular diagnostic for causative mutations. Molecular genetic analysis revealed two novel (p.Tyr174Cys, p.Tyr177Cys) and one previously described (p.Tyr182Cys) missense mutations in TIMP3. In families with p.Tyr177Cys and p.Tyr182Cys, metamorphopsia and/or decrease in visual acuity were the initial symptoms occurring at approximately the sixth decade of life. The p.Tyr174Cys mutation carriers had first symptoms at approximately the third decade with dark adaptation problems and visual field defects. The ocular phenotype included drusen-like deposits, rapidly progressive geographic atrophy, choroidal neovascularization (CNV), and polypoidal choroidal neovascularization (PCV). Late disease manifestations were uniform with widespread chorioretinal atrophy, fibrosis, and choroidal thinnin...Continue Reading

Citations

Mar 10, 2018·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·UNKNOWN Berufsverband der Augenärzte Deutschlands e. V. (BVA)UNKNOWN Retinologische Gesellschaft e. V. (RG)
Aug 22, 2018·Journal of Neuroscience Research·Bela Anand-ApteHeidi Stöhr
Sep 25, 2015·The Journal of Biological Chemistry·Jilin ZhouJanet R Sparrow
Aug 16, 2019·Ophthalmic Surgery, Lasers & Imaging Retina·Adam M Hanif, Nieraj Jain
Aug 2, 2019·Clinical & Experimental Ophthalmology·Dora KoutresiGabriella De Salvo
Jul 15, 2016·Retina·Philipp L MüllerPeter Charbel Issa
Nov 11, 2019·The British Journal of Ophthalmology·Najiha RahmanMichel Michaelides
Jul 28, 2020·Ophthalmic Genetics·Meghan J DeBenedictisBela Anand-Apte
Nov 9, 2018·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·UNKNOWN Professional Association of German Ophthalmologists (Berufsverband der Augenärzte Deutschlands e. V., BVA)UNKNOWN German Retina Society e. V. (Retinologische Gesellschaft e. V., RG)
Mar 10, 2021·Clinical & Experimental Ophthalmology·Michalis GeorgiouMichel Michaelides
Apr 20, 2021·Amino Acids·Jianhai DuJennifer R Chao
Nov 14, 2020·Investigative Ophthalmology & Visual Science·Amol A SuraChristine A Curcio
Jun 12, 2021·Investigative Ophthalmology & Visual Science·Janet R SparrowRuben Jauregui
Aug 6, 2021·American Journal of Ophthalmology·Kristin RamingKristina Hess

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