June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Photopic Negative Response and Retinal Nerve Fiber Layer Measured by OCT in Brazilian Families with Leber’s Hereditary Optic Neuropathy
Author Affiliations & Notes
  • Gabriel Izan Santos Botelho
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Solange Rios Salomao
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Celia Harumi Tengan
    Neurologia e Neurocirurgia, Universidade Federal de Sao Paulo (UNIFESP), Escola Paulista de Medicina, Brazil
  • Daniel M Rocha
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Paula B Silva
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Paula Y Sacai
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Felipo V Moura
    Neurologia e Neurocirurgia, Universidade Federal de Sao Paulo (UNIFESP), Escola Paulista de Medicina, Brazil
  • Arthur Fernandes
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Rustum Karanjia
    Ottawa Eye Institute, Ontario, Canada
    Ophthalmology, University of California, Los Angeles, California, United States
  • Alfredo A. Sadun
    Ophthalmology, University of California, Los Angeles, California, United States
    Doheny Eye Institute - UCLA, California, United States
  • Rubens Belfort Jr.
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Adriana Berezovsky
    Oftalmologia, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil
  • Footnotes
    Commercial Relationships   Gabriel Izan Botelho, None; Solange Salomao, None; Celia Tengan, None; Daniel Rocha, None; Paula Silva, None; Paula Sacai, None; Felipo Moura, None; Arthur Fernandes, None; Rustum Karanjia, None; Alfredo Sadun, None; Rubens Belfort Jr., None; Adriana Berezovsky, None
  • Footnotes
    Support  Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP grant #2018/05869-9 to AB). This study was financed in part by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001.
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 5051. doi:
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      Gabriel Izan Santos Botelho, Solange Rios Salomao, Celia Harumi Tengan, Daniel M Rocha, Paula B Silva, Paula Y Sacai, Felipo V Moura, Arthur Fernandes, Rustum Karanjia, Alfredo A. Sadun, Rubens Belfort Jr., Adriana Berezovsky; Photopic Negative Response and Retinal Nerve Fiber Layer Measured by OCT in Brazilian Families with Leber’s Hereditary Optic Neuropathy. Invest. Ophthalmol. Vis. Sci. 2020;61(7):5051.

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

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Abstract

Purpose : To assess photopic negative response (PhNR) and retinal nerve fiber layer (RNFL) by OCT in carriers and affected members of Brazilian families with Leber’s Hereditary Optic Neuropathy (LHON).

Methods : Patients with LHON genotyped for one of the three mitochondrial DNA mutations (m.11778G>A; m.14484T>C; m.3460G>A) and carriers were examined. A control group of healthy subjects was included. Full-field ERG PhNR were recorded using red (640 nm) flashes at 1 cd.s/m2, on blue (470 nm) rod saturating background. PhNR amplitude (µV) was measured using baseline-to-trough (BT). The amplitude of PhNR was compared to average and quadrant values from optical coherence tomography scans of both the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC). PhNR amplitudes among affected, carriers and controls were analyzed by Kruskal-Wallis test followed by post-hoc Dunn. PhNR amplitude was compared to OCT parameters by Spearman correlation. P<.05 was considered for statistical significance.

Results : A sample of 20 LHON affected patients (19 males, mean age=30.4 ±9.4 yrs) with the following genotype: m.11778G>A [N=10 (50%), 9 males, age at onset from 4.8 to 27.2 years – mean:17.9±7.1; mean disease duration: 8.9±9.4 yrs ]; m.14484T>C [N=6 (30%) males, age at onset from 12.1 to 30.3 years – mean:19.2±9.8; mean disease duration: 19.6±7.0] and m.3460G>A [4 (20%) males, age at onset from 14.9 to 29.8; disease duration: 4.2±2.3 yrs]. Carriers (mean age: 41.8±13.7 yrs) were 11 females and 1 male [11778 (N=10) and 3460 (N=2)]. Controls were 8 females and 8 males (mean age: 33.6±12.0 yrs). PhNR amplitudes were significantly reduced (p<.001) in LHON affected (-5.87±2.46 µV; n=20) compared to carriers (-16.77±3.65 µV; n=12) and controls (-22.60±5.85 µV; n=16) and in carriers compared to controls (p<.004). In affected patients PhNR amplitude (p=.37) and OCT parameters (p=.85) were comparable among the 3 mtDNA mutations. A significant negative correlation was found between PhNR amplitude and total RNFL thickness (r=-.79, p<.0001) and for superior (r=-.71; p=.0005), inferior (r=-.71; p=.0004) and nasal (r=-.60; p=.005) quadrants.

Conclusions : There was a significant decrease in the PhNR LHON affected patients and carriers. The reduction in PhNR amplitude was smaller in carriers when compared to affected patients. Similar findings were found in all three primary mutations.

This is a 2020 ARVO Annual Meeting abstract.

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