Clinical and genetic characterization of a large primary open angle glaucoma pedigree. (4th May 2017)

• Record Type: Journal Article
• Authors: Kader, Mohideen Abdul; Namburi, Prasanthi; Ramugade, Sarika; Ramakrishnan, R.; Krishnadas, Subbiah R.; Roos, Ben R.; Periasamy, Sundaresan; Robin, Alan L.; Fingert, John H.
• Is Part Of: Ophthalmic genetics. Volume 38:Number 3(2017)
• Page Start: 222
• Page End: 225
• Publication Date: 2017-05-04
• Subjects: Genetics -- glaucoma -- pedigree -- POAG; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2016.1193883
• Languages: English
• ISSNs: 1381-6810

Abstract

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.