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Ophthalmic Genet. 2017 May-Jun;38(3):222-225. doi: 10.1080/13816810.2016.1193883. Epub 2016 Jun 29.

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

Author information

1
a Department of Genetics, Aravind Medical Research Foundation , Aravind Eye Hospital , Madurai , India.
2
b Glaucoma Clinic , Aravind Eye Hospital , Tirunelveli , India.
3
c Department of Ophthalmology , Hadassah-Hebrew University Medical Center , Jerusalem , Israel.
4
d Glaucoma Clinic , Aravind Eye Hospital , Madurai , India.
5
e Department of Ophthalmology and Visual Sciences, Carver College of Medicine , University of Iowa , Iowa City , Iowa , USA.
6
f Stephen A. Wynn Institute for Vision Research, University of Iowa , Iowa City , Iowa , USA.
7
g Departments of Ophthalmology and International Health, School of Medicine and the Bloomberg School of Public Health , Johns Hopkins University , Baltimore , Maryland , USA.
8
h Department of Ophthalmology , University of Maryland , Baltimore , Maryland , USA.

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.

KEYWORDS:

Genetics; POAG; glaucoma; pedigree

PMID:
27355837
PMCID:
PMC5329139
DOI:
10.1080/13816810.2016.1193883
[Indexed for MEDLINE]
Free PMC Article

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