Study recruitment
Subjects with juvenile open angle glaucoma (JOAG) were recruited from ophthalmology clinics. When possible, subjects underwent an ophthalmologic exam, which included visual acuity assessment, slit-lamp examination to evaluate the anterior segment, dilated fundus examination to document the structural changes of glaucoma, and gonioscopic examination to evaluate the angle structure. JOAG was defined as: 1) absence of secondary causes of glaucoma; 2) IOP > 21 mmHg; 3) open anterior chamber angle on gonioscopy (grade 3 or 4 of modified Shaeffer classification); 4) characteristic optic disc damage and/or typical visual field loss; and 5) IOP >21 mmHg in at least one eye in any family member aged between 3 and 40 years old. Pedigree information and disease status were ascertained from probands and family members. Asymptomatic family members were also invited to participate in the study and undergo a clinical examination and blood draw. Venipuncture was done on each subject and 10 cc of venous whole blood was obtained. Genomic DNA was extracted from the blood samples with the DNeasy Blood DNA extraction kit (Qiagen, Valencia, CA) according to the manufacturer’s instructions.