Juvenile onset primary open angle glaucoma in members of a single Indian family-A case series

Abstract

We report a rare case series of bilateral juvenile open-angle glaucoma (JOAG), in three young girls of a same family with discussion of current understanding of its pathogenesis, differential diagnosis, and management. Two sisters named A and B aged 9yrs and 16yrs respectively presented in eye opd chiefly for blurring of vision and were found to have best corrected visual acuity(BCVA)of 6/18both eyes(BE) for A and 6/12,6/24 in right eye(RE) and left eye(LE) respectively for B with normal anterior segment examination. There was an incidental finding of high intra ocular pressure(IOP) in both eyes for both the girls on routine tonometry. Dilated fundus examination revealed normal optic disc and cup disc (CD) ratios with subsequent automated perimetry showing visual field defects in eyes of both the girls.Eldest sister aged 22years was having very poor visual acuity with only hand movement appreciation, IOP was 25.8 mm of hg(BE) with CD ratios of 0.9(RE) and 1(LE).She was on anti glaucoma medications since 1 month and already operated withtrabeculectomy(BE).There was wide open angle on gonioscopy for all the three sisters. Juvenile open-angle glaucoma (JOAG) is a rare form of glaucoma that differs from adult-onset primary open angle glaucoma (POAG) in its age of onset and often in the magnitude of IOP elevation. By definition JOAG has its onset between 3 and 40 years of age, while POAG has its onset after the age of 40. Also, patients with JOAG often have extremely high IOP, sometimes greater than 50 mm Hg. The genetic basis of JOAG is much more obvious than that of POAG.The purpose of reporting this case series is to emphasize the importance of tonometry and ocular examination regardless of patient's age.