نتایج جستجو برای: macular corneal dystrophy mcd
تعداد نتایج: 72508 فیلتر نتایج به سال:
AIMS To investigate the frequency of corneal guttata in patients with a corneal dystrophy resulting from an Arg124His (R124H) mutation of betaig-h3 gene. METHODS Slit lamp examination was performed on 30 eyes with corneal dystrophy from a genetically confirmed betaig-h3 R124H mutation and on 50 age matched control eyes. The stage of the corneal dystrophy was classified as stage 0, I, or II an...
PURPOSE To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information. METHODS The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinic...
Occult macular dystrophy is characterized by a slowly progressive bilateral reduction of visual acuity in patients with normal fundus and fluorescein angiography. We describe case 36-year-old male patient diagnosed this condition, after extensive investigation multimodal imaging, electrophysiology tests, systemic screening. dystrophy: brief literature review
LABORATORY DATA chromosomal assignment chromosome 5q localization gene, structural-functional anomalies gene analysis-DNA analysis TGFBI (CSD2) (CDGG1) (CSD) (BIGH3) transforming growth factor, beta-induced 68kD, gene chr.5q31 OCULAR DISORDERS corneal defects not including dystrophy isolated ocular defects: corneal dystrophy, isolated defects corneal dystrophy, isolated defect corneal dystrophy...
Autosomal dominant North Carolina macular dystrophy (NCMD) or central areolar pigment epithelial dystrophy (CAPED) is an allelic disorder that maps to an approximately 7.2 cM interval between DNA markers at D6S424 and D6S1671 on 6q14-q16.2. The further refinement of the disease locus has been hindered by the lack of additional recombination events involving the critical region. In this study, w...
The hereditary Thiel-Behnke corneal dystrophy, first described in 1967, is frequently confused with Reis-Bucklers dystrophy. Both conditions affect Bowman’s layer and can be difficult to differentiate both clinically and histopathologically. Previously, electron microscopic studies of corneal dystrophies affecting Bowman’s layer identified characteristic ‘‘curly fibres,’’ but it was unclear whe...
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