Correlations between dark-adapted rod threshold elevations and erg response deficits in duchenne muscular dystrophy

Barboni MTS, Dias SL, Silva LA, Damico FM, Vidal KS, Costa MF, Nagy BV, Kremers J, Ventura DF (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Investigative Ophthalmology & Visual Science Association for Research in Vision and Ophthalmology (ARVO)

Book Volume: 62

Article Number: 29

Journal Issue: 4

DOI: 10.1167/iovs.62.4.29

Abstract

PURPOSE. The purpose of this study was to characterize changes in the full-field flash electroretinogram (ERG) in association with psychophysical dark-adapted visual thresholds in patients with genetically characterized Duchenne muscular dystrophy (DMD) either lacking Dp427 (Up 30) or at least Dp260 in addition to Dp427 (Down 30). METHODS. Twenty-one patients with DMD and 27 age-similar controls participated in this study. Dark-adapted (0.01, 3.0, and 10 cd.s/m2 flashes) and light-adapted (3.0 cd.s/m2 flash) ERGs were recorded following International Society for Clinical Electrophysiology of Vision (ISCEV) standard protocols. Visual detection thresholds to 625-nm (cone function) and 527-nm (rod function) light-emitting diode (LED) flashes (2 degree diameter) were measured during a dark adaptation period after a 1-minute exposure to a bleaching light (3000 cd/m2). Initially, 8 minutes of interleaved 625-nm and 527-nm thresholds were measured. After an additional 5 minutes of dark-adaptation, a second set of threshold measurements to 527-nm stimuli was performed during the subsequent 6 minutes. RESULTS. Dark-adapted b-wave amplitude was significantly reduced to all strengths of flash and a-wave in response to the strong flash stimulus was delayed (15.6 vs. 14.7 ms, P < 0.05) in patients with Down 30 compared with controls. Dark-adapted cone thresholds did not differ among the groups (−2.0, −1.8, and −1.7 log cd/m2 for Down 30, Up 30, and controls, respectively, P = 0.21). In contrast, dark-adapted rod thresholds were elevated (F(2,36) = 8.537, P = 0.001) in patients with Down 30 (mean = −3.2 ± 1.1 log cd/m2) relative to controls (mean = −4.2 ± 0.3 log cd/m2). Dark-adapted b-wave amplitudes were correlated with dark-adapted rod sensitivity in patients with DMD (Spearman Rho = 0.943, P = 0.005). The changes were much smaller or absent in patients with intact Dp260. CONCLUSIONS. Dp260 is particularly required for normal rod-system function in dark adaptation.

Authors with CRIS profile

Jan Kremers Professur für Experimentelle Augenheilkunde

Involved external institutions

Semmelweis University / Semmelweis Egyetem HU Hungary (HU) University of São Paulo / Universidade de São Paulo (USP) BR Brazil (BR) Budapest University of Technology and Economics (BME) / Budapesti Műszaki és Gazdaságtudományi Egyetem HU Hungary (HU)

How to cite

APA:

Barboni, M.T.S., Dias, S.L., Silva, L.A., Damico, F.M., Vidal, K.S., Costa, M.F.,... Ventura, D.F. (2021). Correlations between dark-adapted rod threshold elevations and erg response deficits in duchenne muscular dystrophy. Investigative Ophthalmology & Visual Science, 62(4). https://dx.doi.org/10.1167/iovs.62.4.29

MLA:

Barboni, Mirella Telles Salgueiro, et al. "Correlations between dark-adapted rod threshold elevations and erg response deficits in duchenne muscular dystrophy." Investigative Ophthalmology & Visual Science 62.4 (2021).

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