Genetic Etiologies of Glaucoma

Abstract

laucoma can be inherited as a mendelian autosomal-dominant or autosomalrecessive trait, or as a complex multifactorial trait. Genetic approaches have helped define the underlying molecular events responsible for some mendelian forms of the disease and have identified the chromosome locations of genes that are likely to contribute to common complex forms. Future directions include the discovery of new glaucoma genes, determining the clinical phenotypes associated with specific genes and mutations, investigating environmental factors that may contribute to the disease, investigating gene-environment interactions and gene-gene interactions, and developing a mutation database that can be used for diagnostic and prognostic testing.

Aqueous humor level of sCD44 in patients with degenerative myopia and primary open-angle glaucoma

“…It is known that POAG is a genetically heterogeneous disorder, featuring interaction of multiple genes and affected by environmental influences [19]. We suggest that the increase in sCD44 concentration in POAG AH is secondary to an underlying heterogeneous pathophysiology and that AH levels of sCD44 may be influenced by other factors.…”

Aqueous humor level of sCD44 in patients with degenerative myopia and primary open-angle glaucoma

“…It is known that POAG is a genetically heterogeneous disorder, featuring interaction of multiple genes and affected by environmental influences [19]. We suggest that the increase in sCD44 concentration in POAG AH is secondary to an underlying heterogeneous pathophysiology and that AH levels of sCD44 may be influenced by other factors.…”

Characteristics of Anterior Segment Dysgnesis in Pediatric and Strabismus Ophthalmology Unit at Cicendo Eye Hospital 2012-2014

“…Thus, the possibility of getting congenital glaucoma is increased up to 50%. 2,3,12 The distribution of diagnosis types towards the appeared diagnoses in this study is presented, which shows in single diagnosis congenital glaucoma appeared dominantly in patients. Anterior Segment Dysgenesis is malformation which involves cornea, lens, and anterior space.…”

Antiglaucoma Potential of β-Glucogallin Is Mediated by Modulating Mitochondrial Responses in Experimentally Induced Glaucoma

“…All the results from our model prove that the PC12 cells exhibit mitochondrial dysfunction at various stages in the course of glaucoma. Still, most of the published studies have concentrated on single genes or investigated in the context of mitochondria without taking into account the role of external genes unlike in the present report of “multiple gene interactions” [65]. Thus, identifying complete linkages in the glaucoma progression would give a clue in finding the right drug to target the progression of the disease.…”

Aqueous humor level of sCD44 in patients with degenerative myopia and primary open-angle glaucoma

“…It is known that POAG is a genetically heterogeneous disorder, featuring interaction of multiple genes and affected by environmental influences [19]. We suggest that the increase in sCD44 concentration in POAG AH is secondary to an underlying heterogeneous pathophysiology and that AH levels of sCD44 may be influenced by other factors.…”

Characteristics of Anterior Segment Dysgnesis in Pediatric and Strabismus Ophthalmology Unit at Cicendo Eye Hospital 2012-2014

“…Thus, the possibility of getting congenital glaucoma is increased up to 50%. 2,3,12 The distribution of diagnosis types towards the appeared diagnoses in this study is presented, which shows in single diagnosis congenital glaucoma appeared dominantly in patients. Anterior Segment Dysgenesis is malformation which involves cornea, lens, and anterior space.…”

Antiglaucoma Potential of β-Glucogallin Is Mediated by Modulating Mitochondrial Responses in Experimentally Induced Glaucoma

“…All the results from our model prove that the PC12 cells exhibit mitochondrial dysfunction at various stages in the course of glaucoma. Still, most of the published studies have concentrated on single genes or investigated in the context of mitochondria without taking into account the role of external genes unlike in the present report of “multiple gene interactions” [65]. Thus, identifying complete linkages in the glaucoma progression would give a clue in finding the right drug to target the progression of the disease.…”

Aqueous humor level of sCD44 in patients with degenerative myopia and primary open-angle glaucoma

“…It is known that POAG is a genetically heterogeneous disorder, featuring interaction of multiple genes and affected by environmental influences [19]. We suggest that the increase in sCD44 concentration in POAG AH is secondary to an underlying heterogeneous pathophysiology and that AH levels of sCD44 may be influenced by other factors.…”

Characteristics of Anterior Segment Dysgnesis in Pediatric and Strabismus Ophthalmology Unit at Cicendo Eye Hospital 2012-2014

“…Thus, the possibility of getting congenital glaucoma is increased up to 50%. 2,3,12 The distribution of diagnosis types towards the appeared diagnoses in this study is presented, which shows in single diagnosis congenital glaucoma appeared dominantly in patients. Anterior Segment Dysgenesis is malformation which involves cornea, lens, and anterior space.…”

Antiglaucoma Potential of β-Glucogallin Is Mediated by Modulating Mitochondrial Responses in Experimentally Induced Glaucoma

“…All the results from our model prove that the PC12 cells exhibit mitochondrial dysfunction at various stages in the course of glaucoma. Still, most of the published studies have concentrated on single genes or investigated in the context of mitochondria without taking into account the role of external genes unlike in the present report of “multiple gene interactions” [65]. Thus, identifying complete linkages in the glaucoma progression would give a clue in finding the right drug to target the progression of the disease.…”