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MOHIDEEN KADER, Rengappa Ramakrishnan, Subbiah Ramaswami Krishnadas, Prasanthi Namburi, Periasamy Sundaresan, Alan Robin, Pradeep Ramulu, John Fingert; Clinical Profile Of A Large Family With Primary Open Angle Glaucoma (POAG) In South Indian Population. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6237. doi: https://doi.org/.
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Family history of glaucoma is a significant risk factor for primary open angle glaucoma (POAG). Many of the known glaucoma-causing genes have been identified with studies of large pedigrees that have many members affected with glaucoma. Herein, we assessed the clinical features of POAG amongst members of a large South-Indian pedigree with a high prevalence of early-onset POAG.
Eighty four members of the large pedigree underwent a complete ocular examination, including applanation tonometry, pachymetry, gonioscopy and fundus examination at screening camp in their home town. The POAG and POAG suspect members underwent perimetry testing at base hospital to confirm the diagnosis.
Fourteen (17%) of 84 participants were diagnosed with POAG. The mean age of those diagnosed with POAG was 58 years (range 34-86, SD 16) and was significantly greater than the age of the glaucoma suspects (mean age 52; range 36-68) or normal family members (mean age 31; range 5-75) (p<0.001). Eight patients (10%) were diagnosed as having suspect POAG and 62 patients (74%) had no evidence of either POAG or ocular hypertension. Mean intraocular pressure (IOP) was significantly higher (p<0.001) in patients with POAG (21.0 mm Hg ± 6.1) than in either glaucoma suspects (17.0 mm Hg ± 2.8) or normal family members (15.6 mm Hg ± 2.5). Similarly, central corneal thickness (CCT) was significantly thinner (p<0.01) in patients with POAG (533 microns ± 40) than in glaucoma suspects (554 microns ± 38) or normal family members (555microns ± 33). Finally, cup-to-disc ratio was significantly larger (p<0.001) in glaucoma patients (0.74 ± 0.14) than in glaucoma suspects (0.56 ± 0.09) or normal family members (0.50 ± 0.04). The inheritance pattern of glaucoma in the pedigree most closely matches an autosomal dominant pattern.
Our large POAG pedigree has distinct clinical features. This pedigree has a highly heritable form of POAG, and the carefully collected clinical features of the disease, that are presented in this report, are likely to assist ongoing studies to identify new glaucoma causing genes that may be important in this Indian population.
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