December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Low-Tension Glaucoma-like Phenotype in a LHON Patient with Mitochondrial DNA 11778 Mutation
Author Affiliations & Notes
  • X Xiao
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • Q Zhang
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • L Guo
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • X Jia
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • X Guo
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • S Li
    Ocular Genetics and Molecular Biology Zhongshan Ophthalmic Center Sun Yat-sen University Guangzhou China
  • Footnotes
    Commercial Relationships   X. Xiao, None; Q. Zhang, None; L. Guo, None; X. Jia, None; X. Guo, None; S. Li, None. Grant Identification: 863 Plan (Z19-01-04-02, QZ),OYSFMOH(97016),
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 815. doi:
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    • Get Citation

      X Xiao, Q Zhang, L Guo, X Jia, X Guo, S Li; Low-Tension Glaucoma-like Phenotype in a LHON Patient with Mitochondrial DNA 11778 Mutation . Invest. Ophthalmol. Vis. Sci. 2002;43(13):815.

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

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Abstract

Abstract: : Purpose: To document low-tension glaucoma-like ocular changes in a patient with Leber's hereditary optic neuropathy (LHON) and and mitochondrial DNA (mtDNA) 11778 mutation. Methods: Examination of intraocular pressure (IOP), visual field, optical coherence tomography (OCT), Heidelberg retina tomograph (HRT), CT scan of brain, and mtDNA mutational screening was conducted in the patient. Results: Ocular examination of IOP, ophthalmoscope, visual field, OCT and HRT displayed a phenotype of low tension glaucoma in the patient. CT scan showed no abnormality of the optical canal, chiasm and brain. Gene analysis of the patient revealed a homozygous mtDNA 11778 mutation, which implied a disease of Leber's hereditary optic neuropathy (LHON). Conclusion: LHON may rarely have a manifestion similar to low-tension glaucoma.

Keywords: 486 neuro-ophthalmology: diagnosis • 498 optic disc • 432 imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) 
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