| Symbol
| GLC3A
|
| Location
| 2p22.2
|
| Name
|
glaucoma, primary 3A, congenital (buphtalmos) |
| Corresponding gene
|
CYP1B1
|
| Main clinical features
|
increased intraocular pressure dating from intrauterine life, hence the term buphthalmos, meaning 'box eye', involving only about half of cases both eyes and males are affected somewhat more often than females (the defect is thought to involve the permeability of the trabeculum to aqueous humor) |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| eye |
| Type
| disease
|
| Name
| cytochrome P450,family 1 (CYP1B1)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| deletion
|
| abnormal protein/loss of function
| codon 370 (1454delC), codon 277 (1176delT), codon 179 (880delG)
| | insertion
|
| truncated protein
| codon 404 (1556dupATGCCACCAC) that results in a premature stop codon 26 amino acids after the last original amino acid
| |
| Remark(s)
|
. mutations in the gene affect its function, alter retinoic acid levels,
and impair retinal ganglion cell survival during development (PMID: 18470941)) |
| Genotype/Phenotype correlations
|
characterized by a low penetrance and the putative existence of a dominant modifier locus unlinked genetically to CYP1B1, including cases of Peters anomaly |