Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG).
Juvenile-onset open-angle glaucoma (JOAG) is an autosomal dominant disease characterized by an early age of onset and severely elevated intraocular pressures. Large JOAG pedigrees have been pivotal in genetic linkage analyses that have helped establish the association between JOAG and the myocilin gene (MYOC). Numerous disease-causing MYOC mutations have now been identified, and additional loci on other chromosomes have been linked to JOAG. Ongoing molecular genetic studies on myocilin and the search for new gene defects associated with JOAG may offer new directions in our scientific understanding and clinical management of open-angle glaucoma.
Turalba
Angela V
AV
Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA. angela_turalba@meei.harvard.edu
Chen
Teresa C
TC
D003598:Cytoskeletal Proteins / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000175:diagnosis* / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics; D009154:Mutation; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin