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Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease

The aim of the present study is to determine how electroretinographic (ERG) responses reflect age-related disease progression in the Stargardt disease (STGD1). The prospective comparative cohort study included 8 patients harboring two null ABCA4 variants (Group 1) and 34 patients with other ABCA4 ge...

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Autores principales: Sajovic, Jana, Meglič, Andrej, Hawlina, Marko, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783580/
https://www.ncbi.nlm.nih.gov/pubmed/36555803
http://dx.doi.org/10.3390/ijms232416161
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author Sajovic, Jana
Meglič, Andrej
Hawlina, Marko
Fakin, Ana
author_facet Sajovic, Jana
Meglič, Andrej
Hawlina, Marko
Fakin, Ana
author_sort Sajovic, Jana
collection PubMed
description The aim of the present study is to determine how electroretinographic (ERG) responses reflect age-related disease progression in the Stargardt disease (STGD1). The prospective comparative cohort study included 8 patients harboring two null ABCA4 variants (Group 1) and 34 patients with other ABCA4 genotypes (Group 2). Age at exam, age at onset, visual acuity (VA) and ERG responses were evaluated. The correlation between ERG responses and age in each patient group was determined using linear regression. A Mann-Whitney U Test was used to compare the median values between the groups. Age of onset was significantly earlier in Group 1 than in Group 2 (8 vs. 18), while disease duration was similar (13 vs. 12 years, i.e., advanced stage). Group 1 had significantly worse VA and lower ERG responses. ERG responses that significantly correlated with age in Group 1 were DA 0.01 and 3.0 ERG, which represented a retinal rod system response. The only ERG response that significantly correlated with age in Group 2 was the S-cone ERG. The observed difference was likely due to early cone loss occurring in double-null patients and slower photoreceptor loss in patients with other genotypes. The results suggest that specific ERG responses may be used to detect double-null patients at an early stage and monitor STGD1 disease progression in patients with specific genotypes.
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spelling pubmed-97835802022-12-24 Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease Sajovic, Jana Meglič, Andrej Hawlina, Marko Fakin, Ana Int J Mol Sci Article The aim of the present study is to determine how electroretinographic (ERG) responses reflect age-related disease progression in the Stargardt disease (STGD1). The prospective comparative cohort study included 8 patients harboring two null ABCA4 variants (Group 1) and 34 patients with other ABCA4 genotypes (Group 2). Age at exam, age at onset, visual acuity (VA) and ERG responses were evaluated. The correlation between ERG responses and age in each patient group was determined using linear regression. A Mann-Whitney U Test was used to compare the median values between the groups. Age of onset was significantly earlier in Group 1 than in Group 2 (8 vs. 18), while disease duration was similar (13 vs. 12 years, i.e., advanced stage). Group 1 had significantly worse VA and lower ERG responses. ERG responses that significantly correlated with age in Group 1 were DA 0.01 and 3.0 ERG, which represented a retinal rod system response. The only ERG response that significantly correlated with age in Group 2 was the S-cone ERG. The observed difference was likely due to early cone loss occurring in double-null patients and slower photoreceptor loss in patients with other genotypes. The results suggest that specific ERG responses may be used to detect double-null patients at an early stage and monitor STGD1 disease progression in patients with specific genotypes. MDPI 2022-12-18 /pmc/articles/PMC9783580/ /pubmed/36555803 http://dx.doi.org/10.3390/ijms232416161 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Sajovic, Jana
Meglič, Andrej
Hawlina, Marko
Fakin, Ana
Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
title Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
title_full Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
title_fullStr Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
title_full_unstemmed Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
title_short Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease
title_sort electroretinography as a biomarker to monitor the progression of stargardt disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783580/
https://www.ncbi.nlm.nih.gov/pubmed/36555803
http://dx.doi.org/10.3390/ijms232416161
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