Abstract
ABSTRACTPrimary 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 autosomal recessive mode of inheritance with considerable number of sporadic cases. The etiology of this disease has not been fully understood but some genes like CYP1B1, MYOC, FOXC1, LTBP2 have been implicated. Various chromosomal aberrations and mutations in mitochondrial genome have also been reported. Molecular biology has developed novel techniques in order to do genetic and biochemical characterization of many genetic disorders including PCG. Techniques like polymerase chain reaction, single strand conformational polymorphism and sequencing are already in use for diagnosis of PCG and other techniques like protein truncation testing and functional genomics are beginning to find their way into molecular workout of this disorder. In the light of its genetic etiology, it is important to develop methods for genetic counseling for the patients and their families so as to bring down its incidence. In this review, we ought to develop a genetic insight into PCG with possible use of molecular biology and functional genomics in understanding the disease etiology, pathogenesis, pathology and mechanism of inheritance. We will also discuss the possibilities and use of genetic counseling in this disease.How to cite this article: Faiq M, Mohanty K, Dada R, Dada T. Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma. J Current Glau Prac 2013;7(1):25-35.
Highlights
Primary congenital glaucoma (PCG) is an idiopathic, infantile, irreversibly blinding disorder characterized by progressive loss of retinal ganglion cells with a characteristic hallmark of trabecular meshwork (TM) dysgenesis
PCG is an ocular malformation with dysgenesis of the TM and anterior chamber angle precipitating impediment to the aqueous humor dynamics causing elevation in intraocular pressure (IOP) (>12 mm Hg) which, in turn, leads to damage in optic nerve and, as a result, blindness
We have reported two sequence variations viz GGC375ins and GGC447ins in FOXC1 gene in PCG patients tested negative for Cytochrome p450 1B1 (CYP1B1) mutations
Summary
Primary congenital glaucoma (PCG) is an idiopathic, infantile, irreversibly blinding disorder characterized by progressive loss of retinal ganglion cells with a characteristic hallmark of trabecular meshwork (TM) dysgenesis. Molecular genetic techniques have proved to be indispensible in many areas of inherited disorders including ophthalmic disease, such as PCG. Location of mutations in the gene has a role to play in structuring the molecular diagnosis and prognosis of a genetic disorder.
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