Mitochondrial Genome Alterations, Cytochrome C Oxidase Activity, and Oxidative Stress: Implications in Primary Open-angle Glaucoma.

Aim: To evaluate mitochondrial genome alterations, cytochrome c oxidase (COX) activity, and oxidative stress in primary open-angle glaucoma (POAG).

Methodology: Whole mitochondrial genome was screened in 75 POAG cases and 105 controls by polymerase chain reaction (PCR) sequencing. COX activity was measured from peripheral blood mononuclear cells (PBMCs).

Role of Mitochondrial Mutations in Ocular Aggregopathy.

Background Mitochondria are essential cellular organelles that are responsible for oxidative stress-induced damage in age-dependent neurodegenerations such as glaucoma. Previous studies have linked mitochondrial DNA (mtDNA) mutations to cellular energy shortages that result in eye degeneration. Methodology To look for nucleotide variations in mtDNA in exfoliation syndrome/glaucoma (XFS/XFG), we performed a polymerase chain reaction (PCR) to amplify the entire coding region of the mitochondrial genome from peripheral blood of XFS/XFG (n = 25) patients and controls (n = 25).

Mindfulness Meditation Reduces Intraocular Pressure, Lowers Stress Biomarkers and Modulates Gene Expression in Glaucoma: A Randomized Controlled Trial.

Background: Reducing intraocular pressure (IOP) in primary open-angle glaucoma (POAG) is currently the only approach to prevent further optic nerve head damage. However, other mechanisms such as ischemia, oxidative stress, glutamate excitotoxicity, neurotrophin loss, inflammation/glial activation, and vascular dysregulation are not addressed. Because stress is a key risk factor affecting these mechanisms, we evaluated whether mindfulness-based stress reduction can lower IOP and normalize typical stress biomarkers.

Identification and genotype phenotype correlation of novel mutations in SIX6 gene in primary open angle glaucoma.

Background: Recently SIX1 and SIX6 genes have been associated with primary open angle glaucoma (POAG). This study was planned to do mutation screening in SIX1 and SIX6 genes in North Indian POAG patients and correlate with clinical phenotypes.

Materials And Methods: SIX1 and SIX6 genes were amplified by PCR and sequenced in 115 POAG cases and 105 controls.

Oxidative DNA damage and reduced expression of DNA repair genes: Role in primary open angle glaucoma (POAG).

Background: Controversy exists regarding the role of oxidative DNA damage and DNA repair in primary open angle glaucoma (POAG). We performed a case control study to test the hypothesis that oxidative DNA damage and base excision repair (BER) genes PARP1 and OGG1 are involved in POAG pathogenesis.

Materials And Methods: The study included 116 POAG patients and 116 cataract patients as controls.

Neurodegenerative Eye Disorders: Role of Mitochondrial Dynamics and Genomics.

As a major source of cellular energy, mitochondria are critical for optimal ocular function. They are also essential for cell differentiation and survival. Mitochondrial mutations and oxidative damage to the mitochondrial DNA are important factors underlying the pathology of many ocular disorders.

A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature.

Purpose: Ichthyosis is known to have ocular associations such as blepharitis, hypertrophic conjunctivitis, corneal vascularization, ectropion, lagophthalmos, etc. However, no reports of its association with glaucoma are there, to the best of our knowledge. We report a unique case of juvenile open-angle glaucoma (JOAG) with lamellar ichthyosis.

Genetic, 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, photophobia and blepharospasm) though there are many additional symptoms, including large eye ball and hazy cornea.

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.

Purpose: Primary congenital glaucoma (PCG), a severe form of glaucoma that presents early in life, is an autosomal recessive eye disorder that results from defects in anterior eye segment. Null mutations in LTBP2 were reported in patients with PCG in Pakistani and Iranian families. This study was aimed to identify the mutation profile of the LTBP2 gene in north Indian patients with PCG.

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).