Abstract
ABSTRACTGlaucoma 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, photophobia and blepharospasm) though there are many additional symptoms, including large eye ball and hazy cornea. The only anatomical anomaly found in PCG is trabecular meshwork (TM) dysgenesis. PCG is an inheritable disease with established genetic etiology. It transmits through autosomal recessive mode. A number of cases are sporadic also. Mutations in many genes have been found to be causative in PCG and many are yet to be found. Mutations in cytochrome P4501B1 (CYP1B1) gene have been found to be the predominant cause of PCG. Other genes that have been implicated in PCG etiology are myocilin, Forkhead-related transcription factor C1 (FOXC1) and latent transforming growth factor beta-binding protein 2 (LTBP2). Mutations in these genes have been reported from many parts of the world. In addition to this, mitochondrial genome mutations are also thought to be involved in its pathogenesis. There appears to be some mechanism involving more than one genetic factor. In this review, we will discuss the various clinical, biochemical and genetic aspects of PCG. We emphasize that etiology of PCG does not lie in a single gene or genetic factor. Research needs to be oriented into a direction where gene-gene interactions, ocular embryology, ophthalmic metabolism and systemic oxidative status need to be studied in order to understand this disorder. We also accentuate the need for ophthalmic genetic facilities in all ophthalmology setups.How to cite this article: Faiq M, Sharma R, Dada R, Mohanty K, Saluja D, Dada T. Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma. J Current Glau Prac 2013;7(2):66-84.
Highlights
Glaucoma,[1] derived from Greek glaukos[2] is a term referring to a collection of related disorders with complex optic nerve atrophy[3] and characteristic loss of larger retinal ganglion cells (RGC)[4,5] leading to a consequent carbon copy pattern of loss of visual field and vision.[6]
The number of chromosomal aberrations, many chromosomal loci identified and a great variety of genes involved make Primary congenital glaucoma (PCG) an intricate eye condition with multifarious etiologies and diverse pathogenic mechanisms. This diversity in pathogenesis accounts for the variable penetrance observed in PCG
The more we know about the pathogenesis of this disease, the more effectively its management strategem can be planned so that patients and their relatives are counseled with respect to risk factors
Summary
Glaucoma (pronunciation: glaw-ko’me),[1] derived from Greek glaukos (meaning bluish-green gleam)[2] is a term referring to a collection of related disorders with complex optic nerve atrophy[3] and characteristic loss of larger retinal ganglion cells (RGC)[4,5] leading to a consequent carbon copy pattern of loss of visual field and vision.[6]. There are a number of studies which suggest that the bequest of PCG is polygenic (involving more than one gene as an etiological factor).
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