Clinical and genetic characterization of a large primary open angle glaucoma pedigree

• Published in: Ophthalmic genetics 2017-05, Vol.38 (3), p.222-225
• Main Authors: Kader, Mohideen Abdul, Namburi, Prasanthi, Ramugade, Sarika, Ramakrishnan, R, Krishnadas, Subbiah R, Roos, Ben R, Periasamy, Sundaresan, Robin, Alan L, Fingert, John H
• Format: Article
• Language: English
• Subjects: Adult; Aged; Cytoskeletal Proteins - genetics; Eye Proteins - genetics; Female; Glaucoma, Open-Angle - diagnosis; Glaucoma, Open-Angle - genetics; Glycoproteins - genetics; Gonioscopy; Humans; India; Intraocular Pressure - physiology; Male; Middle Aged; Ocular Hypertension - diagnosis; Ocular Hypertension - genetics; Pedigree; Protein-Serine-Threonine Kinases - genetics; Transcription Factor TFIIIA - genetics; Visual Field Tests; Visual Fields - physiology; Young Adult
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2016.1193883

To both characterize the clinical features of large primary open angle glaucoma (POAG) pedigree from a village in southern India and to investigate the genetic basis of their disease. Eighty-four members of a large pedigree received complete eye examinations including slit lamp examination, tonometry, gonioscopy, and ophthalmoscopy. Some were further studied with perimetry. Those diagnosed with POAG were tested for disease-causing mutations in the myocilin and optineurin genes with Sanger sequencing. Fourteen of 84 family members were diagnosed with POAG, while eight were clinically judged to be POAG-suspects. The family structure and the pattern of glaucoma in the pedigree are complex. Features of glaucoma in this pedigree include relatively early age at diagnosis (mean 50 ± 14 years) and maximum intraocular pressures ranging from 14 to 36 mm Hg with a mean of 23 mm Hg ± 6.5 mm Hg. Patients had an average central corneal thickness (mean 529 ± 37.8 microns) and moderate cup-to-disc ratios (0.74 ± 0.14). No mutations were detected in myocilin, optineurin, or TANK binding kinase 1 (TBK1). We report a five-generation pedigree with a complex pattern of POAG inheritance that includes 22 POAG patients and glaucoma suspects. Although the familial clustering of POAG in this pedigree is consistent with dominant inheritance of a glaucoma-causing gene, mutations were not detected in genes previously associated with autosomal dominant glaucoma, suggesting the involvement of a novel disease-causing gene in this pedigree.