Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 2, 2014, Pages 841-848

  Guy, John ^a   Feuer, William J ^a   Porciatti, Vittorio ^a   Schiffman, Joyce ^a   Abukhalil, Fawzi ^a   Vandenbroucke, Ruth ^a   Rosa, Potyra R ^a   Lam, Byron L ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Electrophysiology; Leber hereditary optic neuropathy; Mitochondrial DNA

Indexed keywords

ELECTROPHYSIOLOGY; LEBER HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL DNA;

ADULT; DNA, MITOCHONDRIAL; ELECTRORETINOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; POLYMERASE CHAIN REACTION; RETINAL DISEASES; RETINAL GANGLION CELLS; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 84893862880     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13365     Document Type: Article

References (41)

1. Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies: disease mechanisms and therapeutic strategies. Prog Retin Eye Res. 2011;30:81-114.
2. Leber T. Über hereditare und congenital-angelegete Sehnerverleiden. Graefe's Archiv für klinische und experimentelle Opthalmologie. 1871;7:249-271.
3. Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995;118(pt 2);319-337.
4. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111:750-762.
5. Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics. 2001;3:119-125.
6. Newman NJ, Biousse V, David R, et al. Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. Am J Ophthalmol. 2005;140:407-415.
7. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242:1427-1430.
8. Guy J, Shaw G, Ross-Cisneros FN, et al. Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). Mol Vis. 2008;14: 2443-2450.
9. Yee KM, Ross-Cisneros FN, Lee JG, et al. Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2012;53:6389-6392.
10. Barboni P, Savini G, Feuer WJ, et al. Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers. Eur J Ophthalmol. 2012;22:985-991.
11. Newman NJ. Treatment of hereditary optic neuropathies. Nat Rev Neurol. 2012;8:545-556.
12. Klopstock T, Metz G, Yu-Wai-Man P, et al. Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy. Brain. 2013;136:e230.
13. Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain. 2011;134:2677-2686.
14. Sadun AA, Chicani CF, Ross-Cisneros FN, et al. Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch Neurol. 2012;69:331-338.
15. Carelli V, La MC, Valentino ML, et al. Idebenone treatment in Leber's hereditary optic neuropathy. Brain. 2011;134:e188.
16. Lam BL, Feuer WJ, Abukhalil F, et al. Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. Arch Ophthalmol. 2010;128:1129-1135.
17. Ziccardi L, Sadun F, De Negri AM, et al. Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2013;54:6893-6901.
18. Stone EM. Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases. Retina. 2005;25:S72-S73.
19. Vizzeri G, Weinreb RN, Gonzalez-Garcia AO, et al. Agreement between spectral-domain and time-domain OCT for measuring RNFL thickness. Br J Ophthalmol. 2009;93:775-781.
20. Porciatti V, Ventura LM. Normative data for a user-friendly paradigm for pattern electroretinogram recording. Ophthalmology. 2004;111:161-168.
21. Fredette MJ, Anderson DR, Porciatti V, et al. Reproducibility of pattern electroretinogram in glaucoma patients with a range of severity of disease with the new glaucoma paradigm. Ophthalmology. 2008;115:957-963.
22. Ventura LM, Porciatti V, Ishida K, et al. Pattern electroretinogram abnormality and glaucoma. Ophthalmology. 2005;112: 10-19.
23. Ventura LM, Golubev I, Lee W, et al. Head-down posture induces PERG alterations in early glaucoma. J Glaucoma. 2013;22:255-264.
24. Porciatti V, Bosse B, Parekh PK, et al. Adaptation of the steadystate PERG in early glaucoma [published online ahead of print February 19, 2013]. J Glaucoma.
25. Ventura LM, Sorokac N, De Los SR, et al. The relationship between retinal ganglion cell function and retinal nerve fiber thickness in early glaucoma. Invest Ophthalmol Vis Sci. 2006; 47:3904-3911.
26. Beck RW, Cleary PA, Anderson MM Jr, et al. A randomized, controlled trial of corticosteroids in the treatment of acute optic neuritis: The Optic Neuritis Study Group. N Engl J Med. 1992;326:581-588.
27. Beck RW, Kupersmith MJ, Cleary PA, et al. Fellow eye abnormalities in acute unilateral optic neuritis: experience of the optic neuritis treatment trial. Ophthalmology. 1993;100: 691-697.
28. Feuer WJ, Budenz DL, Anderson DR, et al. Topographic differences in the age-related changes in the retinal nerve fiber layer of normal eyes measured by Stratus optical coherence tomography. J Glaucoma. 2011;20:133-138.
29. Ventura LM, Golubev I, Feuer WJ, et al. Pattern electroretinogram progression in glaucoma suspects. J Glaucoma. 2013;22: 219-225.
30. Fleiss JL, Kingman A. Statistical management of data in clinical research. Crit Rev Oral Biol Med. 1990;1:55-66.
31. The clinical profile of optic neuritis: experience of the Optic Neuritis Treatment Trial: Optic Neuritis Study Group. Arch Ophthalmol. 1991;109:1673-1678.
32. Sadun F, De Negri AM, Carelli V, et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2004;137:271-277.
33. Sadun AA, Salomao SR, Berezovsky A, et al. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study. Trans Am Ophthalmol Soc. 2006;104:51-61.
34. Kurtenbach A, Leo-Kottler B, Zrenner E. Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON): multifocal ERG in patients with LHON. Doc Ophthalmol. 2004;108:231-240.
35. Shibata K, Shibagaki Y, Nagai C, et al. Visual evoked potentials and electroretinograms in an early stage of Leber's hereditary optic neuropathy. J Neurol. 1999;246:847-849.
36. Porciatti V, Ventura LM. Physiologic significance of steady-state pattern electroretinogram losses in glaucoma: clues from simulation of abnormalities in normal subjects. J Glaucoma. 2009;18:535-542.
37. Ventura LM, Venzara FX III, Porciatti V. Reversible dysfunction of retinal ganglion cells in non-secreting pituitary tumors. Doc Ophthalmol. 2009;118:155-162.
38. Sadun AA, Win PH, Ross-Cisneros FN, et al. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc. 2000;98:223-232.
39. Porciatti V, Sartucci F. Retinal and cortical evoked responses to chromatic contrast stimuli: specific losses in both eyes of patients with multiple sclerosis and unilateral optic neuritis. Brain. 1996;119(pt 3);723-740.
40. Bayer AU, Erb C. Short wavelength automated perimetry, frequency doubling technology perimetry, and pattern electroretinography for prediction of progressive glaucomatous standard visual field defects. Ophthalmology. 2002;109:1009-1017.
41. Bach M, Unsoeld AS, Philippin H, et al. Pattern ERG as an early glaucoma indicator in ocular hypertension: a long-term, prospective study. Invest Ophthalmol Vis Sci. 2006;47:4881-4887.