Article
Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.
Ophthalmology - 1 Sept 1998
Richards J E, Ritch R, Lichter P R, Rozsa F W, Stringham H M, Caronia R M, Johnson D, Abundo G P, Willcockson J, Downs C A, Thompson D A, Musarella M A, Gupta N, Othman M I, Torrez D M, Herman S B, Wong D J, Higashi M, Boehnke M
Abstract excerpt
OBJECTIVE: This study aimed to update a large kindred with juvenile-onset primary open-angle glaucoma (POAG) first described in 1940 and to identify the underlying genetic cause of the disease. DESIGN: Molecular genetic study of a single kindred, including clinical examination, retrospective revi...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- Chromosomes, Human, Pair 1
- Cytoskeletal Proteins
- DNA
- DNA Primers
- Eye Proteins
- Female
- Genetic Linkage
- Genotype