Molecular genetics of open-angle glaucoma, moving from gene localization to predictive testing.
It has long been suspected that genetic factors play a role in open-angle glaucoma. Only recently, however, has the molecular basis of such factors begun to be established, with the primary localization of the GLC1A locus for juvenile-onset and early-onset autosomal dominant open-angle glaucoma on chromosome 1q. These findings are clinically significant in that they allow familial screening of individuals at risk for glaucoma before the onset of irreversible visual impairment. A physical map of the GLC1A genomic region is now available, and the actual GLC1A gene might be identified in the near future. Nevertheless, open-angle glaucoma is a genetically heterogeneous entity, and additional loci have been mapped or proposed. Identification of open-angle glaucoma genes should provide invaluable clues to the disorder's pathophysiology. It could also aid in conceiving novel therapeutic agents and broadening the screening of at-risk subjects.
Brézin
A P
AP
Inserm U25, Hôpital Necker, Paris, France.
Mondon
H
H
Garchon
H J
HJ
D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology; D010375:Pedigree; D011237:Predictive Value of Tests