Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Original Publication: Basel, Switzerland : MDPI, [2000-

Electroretinography* ; ATP-Binding Cassette Transporters*/genetics; Humans ; Stargardt Disease ; Cohort Studies ; Prospective Studies ; Biomarkers ; Disease Progression

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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ARRS J3-1750 Slovenian Research Agency

Keywords: ABCA4 gene; DA 0.01 ERG b-wave; DA 3.0 ERG a-wave; S-cone ERG; Stargardt disease; electrophysiology; electroretinographic biomarkers; electroretinography; retinal dystrophy

0 (ATP-Binding Cassette Transporters)
0 (Biomarkers)
0 (ABCA4 protein, human)

Date Created: 20221223 Date Completed: 20221226 Latest Revision: 20221226

20250114

PMC9783580

10.3390/ijms232416161

36555803