منابع مشابه
A mouse model for Sorsby fundus dystrophy.
PURPOSE Sorsby fundus dystrophy (SFD) is a rare, late-onset macular dystrophy caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. The known mutations introduce potentially unpaired cysteine residues in the C terminus of the protein and result in the formation of higher-molecular-weight protein complexes of as yet unknown composition and functional consequences in t...
متن کاملbutterfly-shaped macular dystrophy
purpose: to report a case of butterfly-shaped macular dystrophy. patient and findings: a 34-year-old woman presented with metamorphopsia in both eyes from 2 years ago. visual acuity was 9/10 in right eye and 10/10 in left eye. there was no pathologic finding on slit lamp biomicroscopy and funduscopy other than mild macular retinal pigment epithelium mottling. visual fields and electroretinogram...
متن کاملTIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy.
PURPOSE To assess the expression of MMP (matrix metalloproteinase)-2 and -9 and TIMP (tissue inhibitors of metalloproteinases)-1, -2, and -3 in Sorsby fundus dystrophy. DESIGN Cliniciopathological report. METHODS A donor eye with a confirmed S181C mutation in the TIMP-3 gene and an age-matched normal donor eye were studied using in situ hybridization technique with MMP -2 and -9 and TIMP -1...
متن کاملNovel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.
OBJECTIVE To determine the molecular basis of a retinopathy previously described as dominant macular subretinal neovascularization with peripheral retinal degeneration. METHODS The TIMP3 gene was analyzed in family members, and 4 mutation-positive patients were studied using psychophysics and electroretinography. RESULTS Cosegregating with disease in the family was a single base pair change...
متن کاملSorsby's pseudoinflammatory macular dystrophy.
Forty-three additional members of a family described originally by Sorsby and Mason have been examined in order to typify pseudoinflammatory macular dystrophy more accurately. Six new affected members were identified by history alone and a further 7 were examined. Vision is lost from disciform macular degeneration generally during the 5th decade of life. Thereafter peripheral degeneration occur...
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ژورنال
عنوان ژورنال: Kerala Journal of Ophthalmology
سال: 2016
ISSN: 0976-6677
DOI: 10.4103/0976-6677.193877