The Parameters to Establish a New Corneal Dystrophy
نویسندگان
چکیده
منابع مشابه
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملFamilial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.
BACKGROUND Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes. CASES Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. OBSERVATIONS Ophthalmic examinat...
متن کاملFirst Identification of a Triple Corneal Dystrophy Association: Keratoconus, Epithelial Basement Membrane Corneal Dystrophy and Fuchs’ Endothelial Corneal Dystrophy
PURPOSE To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD). METHODS A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with di...
متن کاملAvellino corneal dystrophy.
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...
متن کاملFamilial Corneal Dystrophy.
The dystrophy is of the nodular or granular type (Duke-Elder, 1938; Francheschetti, Klein, Form.i, and Babel, 1951; Franceschetti, 1954). The cases would appear to fall into the classification of heredo-familial degenerations under the heading of parenchymatous degenerations-a dominant form of granular degeneration. The youngest patient reported by Francheschetti was 5 years old, but in the lat...
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ژورنال
عنوان ژورنال: American Journal of Ophthalmology
سال: 2011
ISSN: 0002-9394
DOI: 10.1016/j.ajo.2011.04.010