Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.

doi:10.1136/jmg.35.12.989

Article

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.

Journal of medical genetics - 1 Dec 1998

Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam M F, Garchon H J, Pitts Crick R, Sarfarazi M

Abstract excerpt

Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (...

Topics

Adolescent
Adult
Age of Onset
Child
Cytoskeletal Proteins
Eye Neoplasms
Eye Proteins
Female
Glaucoma, Open-Angle
Glycoproteins
Humans
Male
Mutation
Pedigree

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