Chapter 11. The Genetics of Glaucoma

A multi-cohort genome-wide association study in African ancestry ...

This study provides novel insight into the genetic architecture of glaucoma in this population by identifying gene variants with ...

Genes, pathways, and animal models in primary open-angle ...

Glaucoma is an optic neuropathy characterized by loss of retinal ganglion cells (RGCs) and consequently visual field loss.

Chromosomal Rearrangements and Novel Genes in Disorders of ...

Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma - Volume 11 Issue 4.

DNA Copy Number Variants of Known Glaucoma Genes in ... - IOVS

A genomic deletion spanning the SIX6 gene and the 5′-end of C14ORF39 gene was identified in one POAG case. This patient had an elevated IOP (>21 mm Hg) and a ...

Exome-based investigation of the genetic basis of human ...

Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), ...

Molecular Genomics of Glaucoma: An Update | IntechOpen

Ocular embryogenesis genes when mutated could cause either local (in situ), pan-ocular or systemic syndromic glaucoma phenomics. In glaucoma, except for a few ...

Glaucoma Panel - Genetic testing for - Blueprint Genetics

Typically, the diagnosis is made in the first year of life. Congenital glaucoma is inherited in an autosomal recessive manner and is caused by ...

University of Groningen Investigating the genetic complexity of ...

... (Chapter 2), (ii) identifying causal mutations in patients affected by a secondary form of congenital glaucoma (Chapter 3), (iii) investigating whether copy ...

Common Genetic Determinants of Intraocular Pressure and ... - PLOS

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy.

Congenital glaucoma: Genetic models - SpringerLink

Modes of inheritance of congenital glaucoma have been studied. Two methods of analysis, complex segregation analysis and frequency of congenital glaucoma in ...

Disentangling the genetic overlap and causal relationships between ...

Primary open-angle glaucoma (POAG) is an optic neuropathy characterized by progressive degeneration of the optic nerve that leads to ...

The Importance of Genetic Biomarkers for Glaucoma

Primary open-angle glaucoma is a prototypical complex polygenetic disease in that every time the sample size doubles, the number of genetic loci ...

Primary Congenital Glaucoma - Iowa Glaucoma Curriculum

Chapter 11. Primary Congenital Glaucoma. Your browser does not support HTML5 video. This is version 1.0. Notes on any changes will be added here.

Early-onset glaucoma: MedlinePlus Genetics

Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions ...

Glaucoma - Symptoms and causes - Mayo Clinic

The granule deposits cause an increase in pressure. Glaucoma tends to run in families. In some people, scientists have identified genes related to high eye ...

Increasing the diagnostic yield of childhood glaucoma cases ...

Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood ...

Genetics of Glaucoma Evaluation in the Amish

We know that genetics and environment play a role in glaucoma risk, but most of the people who have been studied are different on many levels. We want to study ...

Glaucoma and Immunogenetic Disorders - EyeWiki

Treatment. Glaucoma ... Glaucoma syndromes: Insights into glaucoma genetics and pathogenesis from monogenic syndromic disorders.

Bioinformatics analysis to identify the differentially expressed genes ...

The vascular endothelial growth factor (VEGF) family and collagen gene family have been associated with glaucoma risk (10). It has been reported ...

European Glaucoma Society Terminology and Guidelines for ...

Gonioscopy shows anterior insertion of the iris, forming a scalloped line with persistent uveal tissue and poorly differentiated structures and/or ...