title: Clinical and genetic characterization of a large primary open angle glaucoma pedigree.
abstract: 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.
authors.affiliation: a Department of Genetics, Aravind Medical Research Foundation , Aravind Eye Hospital , Madurai , India.|b Glaucoma Clinic , Aravind Eye Hospital , Tirunelveli , India.
authors.forename: Mohideen Abdul
authors.initials: MA
authors.lastname: Kader
authors.affiliation: c Department of Ophthalmology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.
authors.forename: Prasanthi
authors.initials: P
authors.lastname: Namburi
authors.affiliation: a Department of Genetics, Aravind Medical Research Foundation , Aravind Eye Hospital , Madurai , India.
authors.forename: Sarika
authors.initials: S
authors.lastname: Ramugade
authors.affiliation: a Department of Genetics, Aravind Medical Research Foundation , Aravind Eye Hospital , Madurai , India.|b Glaucoma Clinic , Aravind Eye Hospital , Tirunelveli , India.
authors.forename: R
authors.initials: R
authors.lastname: Ramakrishnan
authors.affiliation: a Department of Genetics, Aravind Medical Research Foundation , Aravind Eye Hospital , Madurai , India.|d Glaucoma Clinic , Aravind Eye Hospital , Madurai , India.
authors.forename: Subbiah R
authors.initials: SR
authors.lastname: Krishnadas
authors.affiliation: e Department of Ophthalmology and Visual Sciences, Carver College of Medicine , University of Iowa , Iowa City , Iowa , USA.|f Stephen A. Wynn Institute for Vision Research, University of Iowa , Iowa City , Iowa , USA.
authors.forename: Ben R
authors.initials: BR
authors.lastname: Roos
authors.affiliation: a Department of Genetics, Aravind Medical Research Foundation , Aravind Eye Hospital , Madurai , India.
authors.forename: Sundaresan
authors.initials: S
authors.lastname: Periasamy
authors.affiliation: g Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health , Johns Hopkins University , Baltimore , Maryland , USA.|h Department of Ophthalmology , University of Maryland , Baltimore , Maryland , USA.
authors.forename: Alan L
authors.initials: AL
authors.lastname: Robin
authors.affiliation: e Department of Ophthalmology and Visual Sciences, Carver College of Medicine , University of Iowa , Iowa City , Iowa , USA.|f Stephen A. Wynn Institute for Vision Research, University of Iowa , Iowa City , Iowa , USA.
authors.forename: John H
authors.initials: JH
authors.lastname: Fingert
mesh_terms: D000328:Adult; D000368:Aged; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000175:diagnosis* / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006068:Gonioscopy; D006801:Humans; D007194:India; D007429:Intraocular Pressure / Q000502:physiology; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009798:Ocular Hypertension / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D017346:Protein Serine-Threonine Kinases; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human; C403191:TBK1 protein, human
keywords: Genetics; POAG; glaucoma; pedigree