Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma
نویسندگان
چکیده
منابع مشابه
Molecular 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...
متن کاملGenetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma
Glaucoma is an irreversible form of optic neuropathy in which the optic nerve suffers damage in a characteristic manner with optic nerve cupping and retinal ganglion cell death. Primary congenital glaucoma (PCG) is an idiopathic irreversible childhood blinding disorder which manifests at birth or within the first year of life. PCG presents with a classical triad of symptoms (viz epiphora, photo...
متن کاملMolecular 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 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 کاملPrimary trabeculectomy in congenital glaucoma.
The reported success rates in the treatment of congenital glaucoma with goniotomy, trabeculotomy, and trabeculectomy suggest that trabeculectomy should be performed if the other procedures fail. We propose that the decision to perform primary trabeculectomy in primary and secondary congenital glaucoma reduces the effect which the many variable findings in surgical anatomy may have on the outcom...
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ژورنال
عنوان ژورنال: Journal of Current Glaucoma Practice
سال: 2013
ISSN: 0974-0333,0975-1947
DOI: 10.5005/jp-journals-10008-1133