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

doi:10.1080/13816810.2016.1193883

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

Journal article

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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 and John H Fingert

Ophthalmic Genetics, Vol.38(3), pp.222-225

05/04/2017

DOI: 10.1080/13816810.2016.1193883

PMCID: PMC5329139

PMID: 27355837

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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.

pedigree

POAG

Genetics

glaucoma

Details

Title: Subtitle: Clinical and genetic characterization of a large primary open angle glaucoma pedigree
Creators: Mohideen Abdul Kader - Glaucoma Clinic, Aravind Eye Hospital
Prasanthi Namburi - Department of Ophthalmology, Hadassah-Hebrew University Medical Center
Sarika Ramugade - Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital
R Ramakrishnan - Glaucoma Clinic, Aravind Eye Hospital
Subbiah R Krishnadas - Glaucoma Clinic, Aravind Eye Hospital
Ben R Roos - Stephen A. Wynn Institute for Vision Research, University of Iowa
Sundaresan Periasamy - Department of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital
Alan L Robin - Department of Ophthalmology, University of Maryland
John H Fingert - Stephen A. Wynn Institute for Vision Research, University of Iowa
Resource Type: Journal article
Publication Details: Ophthalmic Genetics, Vol.38(3), pp.222-225
DOI: 10.1080/13816810.2016.1193883
PMID: 27355837
PMCID: PMC5329139
NLM abbreviation: Ophthalmic Genet
ISSN: 1381-6810
eISSN: 1744-5094
Publisher: Informa UK Limited
Grant note: N/A / Research to Prevent Blindness (10.13039/100001818) Senior Research Fellowship / Council of Scientific and Industrial Research (10.13039/501100001412) N/A / Leonard and Marlene Hadley Research Fund (10.13039/100000002) EY023512 / National Institutes of Health Award / Indian Council of Medical Research (10.13039/501100001411)
Language: English
Date published: 05/04/2017
Academic Unit: Ophthalmology and Visual Sciences
Record Identifier: 9983979967202771

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