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Genetics of primary open angle glaucoma | 50965
Journal of Clinical and Experimental Ophthalmology

Journal of Clinical and Experimental Ophthalmology
Open Access

ISSN: 2155-9570

Genetics of primary open angle glaucoma


International Conference & Exhibition on Clinical Research Dermatology, Ophthalmology & Cardiology

5-6 July 2011 San Francisco, USA

Marilita M. Moschos

Scientific Tracks Abstracts: JCEO

Abstract :

Glaucoma is an heterogeneous group of disorders resulting from optic nerve damage and is the 2nd leading cause of irreversibleblindness worldwide. It was originally described in Greece around 500 BC. It is distinguished in primary which is nonsyndromicand in secondary which can be syndromic. Primary open angle glaucoma (POAG), the most common form of this group ofheterogeneous diseases, refers to the open, normal-appearing anterior chamber angle with normal trabecular meshwork inpatients and it affects 1-2% of population elder than 40 years. At the genetic level a distinction between juvenile onset wit h anage at diagnosis of 10-35 years and adult onset with an age at diagnosis above 35 years has been made. Although the etiology ofPOAG is unknown, at least 8 genetic loci are involved. MYOC is an important gene for juvenile onset of POAG and a proportionof adult onset POAG. Many more major POAG genes are likely to exist and POAG is believed to have a digenic or multiginericinheritance. It isimportant in order to study the genetics of POAG, to keep in mind that, first, when mapping ?monogenic? traitsin large pedigrees, more than 1 gene might be segregating; Some affected individuals might represent phenocopies; Someaffected individuals might be homozygous for a dominant mutation, and precise clinical delineation of the phenotype ismandatory in linkage mapping.This is the way to design a rational future therapy depending on pathophysiology, genes andpathways and based on pharmacogenetics and gene therapy.

Biography :

Marilita M. Moschos graduated the Pharmacy School of the University and the Medical School of the University of Athens. Sheis a ctually working as Ass. Professor of Department of Ophthalmology of Athens University where she has the clinical andscienti fi c co-responsibility of the Laboratory of Electrophysiology of Vision and the department of Glaucoma. She authored over50 scienti fi c papers in pubmed reviewed journals and presented over 60 at international conferences, in some of them as invitedspeaker. She is a memer of many international ophthalmological societies and reviewer in several ophthalmological journals.

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