نتایج جستجو برای: corneal dystrophy

تعداد نتایج: 48915  

Journal: :Delhi Journal of Ophthalmology 2020

Journal: :British Journal of Ophthalmology 1992

2011
María A. del Buey José A. Cristóbal Francisco J. Ascaso Laura Lavilla

Corneal hysteresis (CH) is a parameter which measures the viscoelastic behaviour of the cornea, indicating its biomechanical integrity1. Some clinical conditions such as keratoconus, Fuchs corneal dystrophy, high myopia, glaucoma and corneal refractive surgery, may induce changes in corneal biomechanical properties, leading to a decrease in CH2-6. Astigmatism, a refractive error related to corn...

2005
Atsushi Kanai Stephen Waltman Frank M. Polack Herbert E. Kaufman

Dtiring the first year of life, diffuse corneal clouding is usually caused by infantile glaucoma or infections and inflammatory processes. Although several of the mucopolysaccharidases may also cause corneal clouding, other signs and symptoms predominate. Maumenee* described a congenital, hereditary corneal dystrophy characterized by diffuse corneal edema during the first year of life. His repo...

Journal: :The British journal of ophthalmology 1998
M Yamada H Mochizuki Y Kamata Y Nakamura Y Mashima

AIM To report the quantitation of the lipid composition of a corneal button from a Japanese woman in her 60s with clinically and histopathologically proved Schnyder's corneal dystrophy. METHODS Total lipids extracted from the corneal button of the patient were analysed by the method of thin layer chromatography flame ionisation detection. Two different solvent systems were used for neutral li...

Journal: :Molecular vision 2003
Afia Sultana Mittanamalli S Sridhar Aparna Jagannathan Dorairajan Balasubramanian Chitra Kannabiran Gordon K Klintworth

PURPOSE Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by progressive central haze, confluent punctate opacities and abnormal deposits in the cornea. It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNAc-6-ST). We screened the CHST6 gene for mutations in Indian familie...

2012
Satoshi Kawasaki Kenta Yamasaki Hiroko Nakagawa Katsuhiko Shinomiya Mina Nakatsukasa Yoshihide Nakai Shigeru Kinoshita

PURPOSE The phosphoinositide kinase, FYVE finger containing (PIKFYVE) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. METHODS Slit-lamp microscopy, corneal topography, and optical coherence tomography were performed for the clinical ...

Journal: :iranian journal of child neurology 0
mitra ataei bsc,department of medical genetics, national institute of genetic engineering and biotechnology (nigeb), tehran, iran mohammad ali zare mehrjerdi md,associate professor of ophtalmology, farabi eye research center, tehran university of medical sciences, tehran, iran amir reza yazdi general physician, genetic diagnostic department, special medical center, tehran, iran akram zamani msc, department of medical genetics, national institute of genetic engineering and biotechnology (nigeb), tehran, iran abolfazl faraje ilanjegh bsc,department of medical genetics, national institute of genetic engineering and biotechnology (nigeb), tehran, iran massoud houshmand md,assistant professor of human genetics, department of medical genetics, national institute of genetic engineering and biotechnology (nigeb), tehran, iran

objective macular corneal dystrophy (mcd) is a rare autosomal recessive disorder affecting the stroma of cornea. most cases of mcd are caused by mutations in chst6 gene. the aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (chst6) through genetic analysis of 7 iranian patients with mcd. materials & methods we screened the chst6 gene to determine the range...

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