April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Coexistence of Glaucomatous Phenotype and Mitochondrial Mutation in a Three Generation Brazilian Family
Author Affiliations & Notes
  • J. P. Vasconcellos
    Ophthalmology,
    University of Campinas, Campinas, Brazil
  • T. Tanno
    Ophthalmology,
    University of Campinas, Campinas, Brazil
  • P. M. A. D. Miranda
    CBMEG,
    University of Campinas, Campinas, Brazil
  • F. Callefo
    CBMEG,
    University of Campinas, Campinas, Brazil
  • E. L. Sartorato
    CBMEG,
    University of Campinas, Campinas, Brazil
  • V. P. Costa
    Ophthalmology,
    University of Campinas, Campinas, Brazil
  • M. B. Melo
    CBMEG,
    University of Campinas, Campinas, Brazil
  • Footnotes
    Commercial Relationships  J.P. Vasconcellos, None; T. Tanno, None; P.M.A.D. Miranda, None; F. Callefo, None; E.L. Sartorato, None; V.P. Costa, None; M.B. Melo, None.
  • Footnotes
    Support  Fapesp Grant 02/11575-0
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2172. doi:
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      J. P. Vasconcellos, T. Tanno, P. M. A. D. Miranda, F. Callefo, E. L. Sartorato, V. P. Costa, M. B. Melo; Coexistence of Glaucomatous Phenotype and Mitochondrial Mutation in a Three Generation Brazilian Family. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2172.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : Glaucoma can be defined as a neurodegenerative disorder characterized by the accelerated loss of optic nerve ganglion cells, associated with correspondent visual field damage. Primary open-angle glaucoma (POAG) is the most common form of glaucoma. Although the pathophysiology of aging process in glaucoma is not well understood, this is one of the most important risk factor for glaucoma development. Mitochondrial dysfunction appears to play a key role in the etiology of neurodegenerative disorders and its participation in the glaucomatous mechanism could be through direct involvement in a number of cellular processes including aging, oxidative damage, and excitotoxicity. A three generation family with previously diagnosis of POAG and a mitochondrial pattern of inheritance was evaluated.

Methods: : A comprehensive ophthalmic evaluation was performed in a family with twenty five members as well as the screening for the presence of three primary mitochondrial mutations, which account for 95% of LHON cases, G11778A in the MT-ND4 gene, T14484C in the MT-ND6 gene and G3460A in the MT-ND1 gene. Mutations G11778A, T14484C and G3460A were evaluated through PCR-RFLP, using SfaNI, BSABI and BSAHI restriction enzymes, respectively.

Results: : Thirteen individuals, including eight affected members carry the G11778A mutation. Among these patients, three have a neuropathy that perfectly matches glaucoma phenotype (total cup to disc ratio). One of them (proband), presents with intraocular pressure (IOP) spike of 27 mmHg while in the other two patients the IOP varies between 13mmHg and 18mmHg, after evaluation by a 24 hours tensional curve.

Conclusions: : This is a report of a family that carries a mitochondrial G11778A mutation and shares clinical characteristics of glaucoma phenotype, raising the participation of mitochondrial dysfunction in the susceptibility for glaucoma development.

Keywords: genetics • optic nerve • mitochondria 
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