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Primary congenital glaucoma

 
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
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… Expand
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Highly Cited
2009
Highly Cited
2009
Null mutations in LTBP2 cause primary congenital glaucoma.
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually… Expand
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Highly Cited
2007
Highly Cited
2007
The British Infantile and Childhood Glaucoma (BIG) Eye Study.
PURPOSE Pediatric glaucoma is a rare, potentially blinding condition, yet, in the United Kingdom, there is a paucity of… Expand
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Highly Cited
2003
Highly Cited
2003
Modification of Ocular Defects in Mouse Developmental Glaucoma Models by Tyrosinase
Mutations in the cytochrome P450 family 1, subfamily B, polypeptide 1 (CYP1B1) gene are a common cause of human primary… Expand
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Highly Cited
2002
Highly Cited
2002
Molecular genetics of primary congenital glaucoma in Brazil.
PURPOSE To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG… Expand
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Review
2000
Review
2000
Molecular genetics of primary congenital glaucoma
Molecular genetic studies conducted during the last several years have thrown some light on the basic molecular defects in… Expand
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Highly Cited
2000
Highly Cited
2000
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown developmental defect(s) in the… Expand
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Highly Cited
1998
Highly Cited
1998
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular… Expand
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Highly Cited
1998
Highly Cited
1998
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome…
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital… Expand
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Highly Cited
1998
Highly Cited
1998
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to… Expand
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