Alternative titles; symbols
DO: 1067;
Cytogenetic location: 8q23 Genomic coordinates (GRCh38): 8:105,100,001-116,700,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 8q23 | Glaucoma 1D, primary open angle | 602429 | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760.
Trifan et al. (1998) studied a large kindred segregating autosomal dominant primary open angle glaucoma over 3 generations, in which 8 individuals were diagnosed as affected and 4 as glaucoma 'suspects.' The glaucoma phenotype in this family was characterized by an optic neuropathy and visual field loss that appeared to start in the third or fourth decade of life; the proband was diagnosed at 55 years of age. Patients had a mild to modest elevation of intraocular pressure (IOP), and their optic nerve heads had a 0.3 to 0.7 cup, with some asymmetry in most patients between the eyes. The clinical course of one of the oldest patients was that of relentless progression of the field loss and poor control of a mildly elevated IOP with medications and trabeculoplasty. Some older family members had abnormal visual fields and optic nerve head configuration consistent with glaucoma, but had normal IOPs; however, all affected individuals in the earliest generation had elevated intraocular pressure. Thus, a rise in intraocular pressure appeared to be a late finding in this family and appeared to be preceded by the optic neuropathy and visual field loss.
In a large 3-generation kindred segregating autosomal dominant adult-onset open angle glaucoma, Trifan et al. (1998) performed genomic linkage using DNA markers and mapped this form of the disease to chromosome 8q23. They designated the locus 'GLC1D.'
Trifan, O. C., Traboulsi, E. I., Stoilova, D., Alozie, I., Nguyen, R., Raja, S., Sarfarazi, M. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am. J. Ophthal. 126: 17-28, 1998. [PubMed: 9683145] [Full Text: https://doi.org/10.1016/s0002-9394(98)00073-7]