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.