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Retinal ganglion cell function assessed by the photopic negative response in Leber's hereditary optic neuropathy

Abstract

Leber's hereditary optic neuropathy (LHON) is an optic nerve disease characterized by subacute and painless loss of vision in young adults, more common in males aging 15 to 35 years. Affected individuals are asymptomatic until the development of a dense and extense central scotoma, dyschromatopsia and visual acuity reduction to the level of legal blindness in one eye, followed by the same condition in the second eye in weeks or months. LHON is a mitochondrial disease caused by mutations in specific nucleotide positions in the mitochondrial DNA, with 95% of cases showing mutations in 11778, 14484 and 3460 positions. Even though the individual can be a carrier of one of these mutations, one can never develop the disease. In the acute phase there is optic disk hyperemia, telangectasic peripapillary blood vessels, vascular tortuosity and retinal nervous fiber layer (RNFL) edema. In the chronic phase there is optic disk palor, sometimes with optic disk cupping, reflecting retinal ganglion cells (RGCs) death. The assessment of RGCs function in LHON is important due to the condition's pathophysiology and can be quantified by a recently developed visual electrophysiological test, the photopic negative response (PhNR). The PhNR is a slow componente of the scotopic full-field electroretinogram generated by the RGCs. Its clinical usefulness has been assured in other optic neuropathies such as glaucoma. The objective of this study is to assess RGCs function measured by PhNR recording in subjects genotyped as having one of the three LHON mtDNA mutations. The assessment of RGCs function is desirable in patients with LHON since their poor central visual acuity makes difficult their monitoring with the available methods. (AU)

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Scientific publications (4)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
BEREZOVSKY, ADRIANA; KARANJIA, RUSTUM; FERNANDES, ARTHUR GUSTAVO; SANTOS BOTELHO, GABRIEL IZAN; NOVELE BUENO, TATIANE LUANA; FERRAZ, NIVEA NUNES; SACAI, PAULA YURI; COUPLAND, STUART GLENN; SADUN, ALFREDO ARRIGO; SALOMAO, SOLANGE RIOS. Photopic negative response using a handheld mini-ganzfeld stimulator in healthy adults: normative values, intra- and inter-session variability. DOCUMENTA OPHTHALMOLOGICA, v. 142, n. 2, . (18/05869-9)
SANTOS BOTELHO, GABRIEL IZAN; SALOMAO, SOLANGE RIOS; TENGAN, CELIA HARUMI; ROCHA, DANIEL M.; SILVA, PAULA B.; SACAI, PAULA Y.; MOURA, FELIPO V.; FERNANDES, ARTHUR; KARANJIA, RUSTUM; SADUN, ALFREDO A.; et al. Photopic Negative Response and Retinal Nerve Fiber Layer Measured by OCT in Brazilian Families with Leber's Hereditary Optic Neuropathy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 61, n. 7, p. 3-pg., . (18/05869-9)
BEREZOVSKY, ADRIANA; KARANJIA, RUSTUM; SACAI, PAULA Y.; MORAES FILHO, MILTON NUNES; FERNANDES, ARTHUR; SANTOS BOTELHO, GABRIEL IZAN; BELFORT, RUBENS, JR.; CARELLI, VALERIO; SADUN, ALFREDO A.; SALOMAO, SOLANGE RIOS. Longitudinal Analysis of Photopic Negative Response in Carriers and Affected Members of the 11778 SOA-BR Leber's Hereditary Optic Neuropathy Pedigree. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 61, n. 7, p. 3-pg., . (18/05869-9)
BEREZOVSKY, ADRIANA; BUENO, TATIANE N.; FERRAZ, NIVEA NUNES; SACAI, PAULA Y.; BOTELHO, GABRIEL I.; FERNANDES, ARTHUR; COUPLAND, STUART; BELFORT, RUBENS, JR.; SADUN, ALFREDO A.; KARANJIA, RUSTUM; et al. Photopic Negative Response in Healthy Adults: Normative Values and Test-Retest Reliability. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, v. 60, n. 9, p. 3-pg., . (18/05869-9)

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