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Title: Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11

Abstract

Primary congenital glaucoma (gene symbol: GLC3) is characterized by an improper development of the aqueous outflow system. The reduced outflow of fluid results in an increased intraocular pressure leading to buphthalmos, optic nerve damage, and eventual visual impairment. GLC3 is a heterogeneous condition with an estimated incidence of 1:2,500 in Middle Eastern and 1:10,000 in Western countries. In many families, GLC3 is an autosomal recessive trait with presentation of an earlier age-of-onset, high intraocular pressure, enlarged cloudy cornea, buphthalmos, and a more aggressive course. The pathogenesis of GLC3 remains elusive despite extensive histologic efforts to identify a single anatomic defect. Recent advances in positional mapping and cloning of human disorders provided an opportunity to identify chromosome locations of the GLC3 phenotype. Our laboratory is currently involved in the mapping of this condition by using a combination of candidate chromosome regions associated with the GLC3 phenotype and by a general positional mapping strategy. 16 refs., 3 tabs.

Authors:
; ;  [1]
  1. Univ. of Connecticut Health Center, Farmington, CT (United States); and others
Publication Date:
OSTI Identifier:
426136
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 61; Journal Issue: 3; Other Information: PBD: 22 Jan 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; GENOTYPE; CONGENITAL DISEASES; HEREDITARY DISEASES; SENSE ORGANS DISEASES; GENES; DISEASE INCIDENCE; AGE DEPENDENCE; HUMAN CHROMOSOME 6; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; HUMAN CHROMOSOMES; POLYMERASE CHAIN REACTION; RECESSIVE MUTATIONS

Citation Formats

Akarsu, A N, Hossain, A, and Sarfarazi, M. Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960122)61:3<290::AID-AJMG16>3.0.CO;2-O.
Akarsu, A N, Hossain, A, & Sarfarazi, M. Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11. United States. https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3<290::AID-AJMG16>3.0.CO;2-O
Akarsu, A N, Hossain, A, and Sarfarazi, M. 1996. "Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11". United States. https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3<290::AID-AJMG16>3.0.CO;2-O.
@article{osti_426136,
title = {Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11},
author = {Akarsu, A N and Hossain, A and Sarfarazi, M},
abstractNote = {Primary congenital glaucoma (gene symbol: GLC3) is characterized by an improper development of the aqueous outflow system. The reduced outflow of fluid results in an increased intraocular pressure leading to buphthalmos, optic nerve damage, and eventual visual impairment. GLC3 is a heterogeneous condition with an estimated incidence of 1:2,500 in Middle Eastern and 1:10,000 in Western countries. In many families, GLC3 is an autosomal recessive trait with presentation of an earlier age-of-onset, high intraocular pressure, enlarged cloudy cornea, buphthalmos, and a more aggressive course. The pathogenesis of GLC3 remains elusive despite extensive histologic efforts to identify a single anatomic defect. Recent advances in positional mapping and cloning of human disorders provided an opportunity to identify chromosome locations of the GLC3 phenotype. Our laboratory is currently involved in the mapping of this condition by using a combination of candidate chromosome regions associated with the GLC3 phenotype and by a general positional mapping strategy. 16 refs., 3 tabs.},
doi = {10.1002/(SICI)1096-8628(19960122)61:3<290::AID-AJMG16>3.0.CO;2-O},
url = {https://www.osti.gov/biblio/426136}, journal = {American Journal of Medical Genetics},
number = 3,
volume = 61,
place = {United States},
year = {Mon Jan 22 00:00:00 EST 1996},
month = {Mon Jan 22 00:00:00 EST 1996}
}