Molecular genetics of primary congenital glaucoma
نویسندگان
چکیده
منابع مشابه
Molecular genetics of primary congenital glaucoma in Brazil.
PURPOSE To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG). METHODS PCG diagnosis was established by presence of buphthalmos in at least one affected eye and associated high intraocular pressures before the age of 3 years. CYP1B1 mutation screening of 52 patients with PCG was performed by SSCP and direct sequencing of PCR fragme...
متن کاملThe Genetics and the Genomics of Primary Congenital Glaucoma
The sight is one of the five senses allowing an autonomous and high-quality life, so that alterations of any ocular component may result in several clinical phenotypes (from conjunctivitis to severe vision loss and irreversible blindness). Most parts of clinical phenotypes have been significantly associated with mutations in genes regulating the normal formation and maturation of the anterior s...
متن کاملPrimary Congenital Glaucoma
Glaucomas of the childhood are devastatinly deceptive in their presentations because of an insidious onset and late recognition. Primary congenital glaucomas (PCG) which serve as a prototype for glaucomas in the young Subtleties of diagnosis may lie in simple symptoms of watering and photophobia. This article is aimed to summarize all common manifestations and basics of surgical treatment, conv...
متن کاملAdult-onset primary glaucoma and molecular genetics: a review.
PURPOSE To evaluate recent molecular genetic studies focused on localizing and identifying the genes involved in adult-onset primary glaucoma, characterizing the gene products, and investigating the molecular mechanisms implicated in the pathophysiology of the disease. METHODS Several studies have aimed at understanding gene expression and protein processing and attempting to correlate the mu...
متن کاملMolecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma
Primary congenital glaucoma (PCG) is a childhood irreversible blinding disorder with onset at birth or in the first year of life. It is characterized by the classical traid of symptoms viz. epiphora (excessive tearing), photophobia (hypersensitivity to light) and blepharospasm (inflammation of eyelids). The only anatomical defect seen in PCG is trabecular meshwork dysgenesis. PCG shows autosoma...
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ژورنال
عنوان ژورنال: Eye
سال: 2000
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.2000.126