Primary congenital and developmental glaucomas

Carly J Lewis; Adam Hedberg-Buenz; Adam P DeLuca; Edwin M Stone; Wallace L M Alward; John H Fingert

doi:10.1093/hmg/ddx205

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Primary congenital and developmental glaucomas

Journal article

Open access

Peer reviewed

Primary congenital and developmental glaucomas

Carly J Lewis, Adam Hedberg-Buenz, Adam P DeLuca, Edwin M Stone, Wallace L M Alward and John H Fingert

Human molecular genetics, Vol.26(R1), pp.R28-R36

08/01/2017

DOI: 10.1093/hmg/ddx205

PMCID: PMC5886473

PMID: 28549150

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Abstract

Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of life and is a major cause of childhood blindness. Other early-onset glaucomas may arise secondary to developmental abnormalities, such as glaucomas that occur with aniridia or as part of Axenfeld-Rieger syndrome. Congenital and childhood glaucomas have strong genetic bases and disease-causing mutations have been discovered in several genes. Mutations in three genes (CYP1B1, LTBP2, TEK) have been reported in PCG patients. Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PAX6 mutations. This review discusses the roles of these genes in primary congenital glaucoma and glaucomas of childhood.

Cytochrome P-450 CYP1B1 - genetics

PAX6 Transcription Factor - metabolism

Eye Diseases, Hereditary

Homeodomain Proteins - metabolism

Humans

Cytochrome P-450 CYP1B1 - metabolism

Transcription Factors - genetics

Anterior Eye Segment - abnormalities

Eye Abnormalities - genetics

Forkhead Transcription Factors - genetics

Glaucoma - congenital

Homeodomain Proteins - genetics

PAX6 Transcription Factor - genetics

Anterior Eye Segment - metabolism

Latent TGF-beta Binding Proteins - genetics

Transcription Factors - metabolism

Aniridia - genetics

Forkhead Transcription Factors - metabolism

Eye Proteins - genetics

Mutation

Glaucoma - genetics

Eye Abnormalities - metabolism

Latent TGF-beta Binding Proteins - metabolism

Details

Title: Subtitle: Primary congenital and developmental glaucomas
Creators: Carly J Lewis - Stephen A. Wynn Institute for Vision Research, 3111B Medical Education and Research Facility, University of Iowa, Iowa City, IA 52242, USA
Adam Hedberg-Buenz - Stephen A. Wynn Institute for Vision Research, 3111B Medical Education and Research Facility, University of Iowa, Iowa City, IA 52242, USA
Adam P DeLuca - Stephen A. Wynn Institute for Vision Research, 3111B Medical Education and Research Facility, University of Iowa, Iowa City, IA 52242, USA
Edwin M Stone - Stephen A. Wynn Institute for Vision Research, 3111B Medical Education and Research Facility, University of Iowa, Iowa City, IA 52242, USA
Wallace L M Alward - Stephen A. Wynn Institute for Vision Research, 3111B Medical Education and Research Facility, University of Iowa, Iowa City, IA 52242, USA
John H Fingert - Stephen A. Wynn Institute for Vision Research, 3111B Medical Education and Research Facility, University of Iowa, Iowa City, IA 52242, USA
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.26(R1), pp.R28-R36
DOI: 10.1093/hmg/ddx205
PMID: 28549150
PMCID: PMC5886473
NLM abbreviation: Hum Mol Genet
ISSN: 1460-2083
eISSN: 1460-2083
Publisher: England
Grant note: T32 GM007337 / NIGMS NIH HHS P30 EY025580 / NEI NIH HHS R01 EY017673 / NEI NIH HHS
Language: English
Date published: 08/01/2017
Academic Unit: Molecular Physiology and Biophysics; Iowa Neuroscience Institute; Center for Bioinformatics and Computational Biology; Ophthalmology and Visual Sciences
Record Identifier: 9983979987702771

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