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

Mohideen Abdul Kader, Prasanthi Namburi, Sarika Ramugade, R. Ramakrishnan, Subbiah R. Krishnadas, Ben R. Roos, Sundaresan Periasamy, Alan L. Robin, John H. Fingert

Research output: Contribution to journalArticle

Abstract

Purpose: 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. Materials and methods: 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.Results: 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).Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalOphthalmic Genetics
DOIs
StateAccepted/In press - Jun 30 2016

Keywords

  • Genetics
  • glaucoma
  • pedigree
  • POAG

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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    Kader, M. A., Namburi, P., Ramugade, S., Ramakrishnan, R., Krishnadas, S. R., Roos, B. R., Periasamy, S., Robin, A. L., & Fingert, J. H. (Accepted/In press). Clinical and genetic characterization of a large primary open angle glaucoma pedigree. Ophthalmic Genetics, 1-4. https://doi.org/10.1080/13816810.2016.1193883