Literature DB >> 2774031

An autosomal dominant form of low-tension glaucoma.

S R Bennett1, W L Alward, R Folberg.   

Abstract

A condition causing glaucomatous optic atrophy and visual field loss at normal or borderline intraocular pressure affected eight members of a family of consecutive generations. The disease was detectable in early adulthood and progressed slowly throughout life. The pattern of inheritance is autosomal dominant. One affected individual died of a myocardial infarction, and his eyes were obtained post mortem. Light and electron microscopic examination demonstrated glaucomatous optic atrophy with loss of ganglion cells. The trabecular meshwork, choroidal and optic nerve vasculature, retinal pigment epithelium, and photoreceptors were normal in appearance. We believe this family has an autosomal dominant genetic condition that is a distinct type of low-tension glaucoma.

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Year:  1989        PMID: 2774031     DOI: 10.1016/0002-9394(89)90112-8

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  14 in total

1.  The OPA1 gene and optic neuropathy.

Authors:  W L M Alward
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

2.  Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Authors:  M Votruba; D Thiselton; S S Bhattacharya
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

3.  Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.

Authors:  M Sarfarazi; A Child; D Stoilova; G Brice; T Desai; O C Trifan; D Poinoosawmy; R P Crick
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

4.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Authors:  John H Fingert; Alan L Robin; Jennifer L Stone; Ben R Roos; Lea K Davis; Todd E Scheetz; Steve R Bennett; Thomas H Wassink; Young H Kwon; Wallace L M Alward; Robert F Mullins; Val C Sheffield; Edwin M Stone
Journal:  Hum Mol Genet       Date:  2011-03-29       Impact factor: 6.150

5.  Short wavelength-automated perimetry compared with standard achromatic perimetry in autosomal dominant optic atrophy.

Authors:  J W Walters; A Gaume; L Pate
Journal:  Br J Ophthalmol       Date:  2006-07-12       Impact factor: 4.638

6.  Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

Authors:  John H Fingert; Alan L Robin; Todd E Scheetz; Young H Kwon; Jeffrey M Liebmann; Robert Ritch; Wallace L M Alward
Journal:  Trans Am Ophthalmol Soc       Date:  2016-08

Review 7.  Major review: Molecular genetics of primary open-angle glaucoma.

Authors:  Yutao Liu; R Rand Allingham
Journal:  Exp Eye Res       Date:  2017-05-10       Impact factor: 3.467

Review 8.  Juvenile-onset open-angle glaucoma - A clinical and genetic update.

Authors:  Harathy Selvan; Shikha Gupta; Janey L Wiggs; Viney Gupta
Journal:  Surv Ophthalmol       Date:  2021-09-16       Impact factor: 6.197

9.  The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.

Authors:  T Aung; K Okada; D Poinoosawmy; L Membrey; G Brice; A H Child; S S Bhattacharya; O J Lehmann; D F Garway-Heath; R A Hitchings
Journal:  Br J Ophthalmol       Date:  2003-02       Impact factor: 4.638

10.  Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

Authors:  Adam P DeLuca; Wallace L M Alward; Jeffrey Liebmann; Robert Ritch; Kazuhide Kawase; Young H Kwon; Alan L Robin; Edwin M Stone; Todd E Scheetz; John H Fingert
Journal:  J Glaucoma       Date:  2017-12       Impact factor: 2.503

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