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Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study

Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last...

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Autores principales: Sajovic, Jana, Meglič, Andrej, Fakin, Ana, Brecelj, Jelka, Šuštar Habjan, Maja, Hawlina, Marko, Jarc Vidmar, Martina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379489/
https://www.ncbi.nlm.nih.gov/pubmed/37510299
http://dx.doi.org/10.3390/genes14071394
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author Sajovic, Jana
Meglič, Andrej
Fakin, Ana
Brecelj, Jelka
Šuštar Habjan, Maja
Hawlina, Marko
Jarc Vidmar, Martina
author_facet Sajovic, Jana
Meglič, Andrej
Fakin, Ana
Brecelj, Jelka
Šuštar Habjan, Maja
Hawlina, Marko
Jarc Vidmar, Martina
author_sort Sajovic, Jana
collection PubMed
description Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last exams, age at onset, Snellen decimal visual acuity (VA), electroretinography (ERG), and FAF images were evaluated. Patients were classified into four Fishman stages and three electroretinography groups, and areas of definitely decreased autofluorescence (DDAF) were measured. Patients were further substratified based on genotype, and phenotype-genotype correlations were performed. The median follow-up was 18 (range 10–26) years. The median yearly VA loss was 0.009 (range 0.002–0.071), while the median progression rate of the DDAF area was 0.354 (range 0.002–4.359) mm(2) per year. Patients harbouring p.(Gly1961Glu) or p.(Asn1868Ile) allele had significantly slower DDAF area progression when compared to patients with other genotypes (0.07 mm(2) vs. 1.03 mm(2), respectively), as well as significantly later age at onset (20 years vs. 13 years, respectively). Results showed that structural and functional parameters, together with genotype, should be considered when counselling patients regarding prognosis and monitoring disease progression. Patients harbouring hypomorphic variants p.(Gly1961Glu) or p.(Asn1868Ile) presented with overall milder disease than patients with other genotypes.
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spelling pubmed-103794892023-07-29 Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study Sajovic, Jana Meglič, Andrej Fakin, Ana Brecelj, Jelka Šuštar Habjan, Maja Hawlina, Marko Jarc Vidmar, Martina Genes (Basel) Article Long-term natural history studies are important in rare disease research. This study aimed to assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 genetically confirmed Stargardt disease (STGD1) patients with a minimum follow-up of 10 years. Age at the first and last exams, age at onset, Snellen decimal visual acuity (VA), electroretinography (ERG), and FAF images were evaluated. Patients were classified into four Fishman stages and three electroretinography groups, and areas of definitely decreased autofluorescence (DDAF) were measured. Patients were further substratified based on genotype, and phenotype-genotype correlations were performed. The median follow-up was 18 (range 10–26) years. The median yearly VA loss was 0.009 (range 0.002–0.071), while the median progression rate of the DDAF area was 0.354 (range 0.002–4.359) mm(2) per year. Patients harbouring p.(Gly1961Glu) or p.(Asn1868Ile) allele had significantly slower DDAF area progression when compared to patients with other genotypes (0.07 mm(2) vs. 1.03 mm(2), respectively), as well as significantly later age at onset (20 years vs. 13 years, respectively). Results showed that structural and functional parameters, together with genotype, should be considered when counselling patients regarding prognosis and monitoring disease progression. Patients harbouring hypomorphic variants p.(Gly1961Glu) or p.(Asn1868Ile) presented with overall milder disease than patients with other genotypes. MDPI 2023-07-02 /pmc/articles/PMC10379489/ /pubmed/37510299 http://dx.doi.org/10.3390/genes14071394 Text en © 2023 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
Fakin, Ana
Brecelj, Jelka
Šuštar Habjan, Maja
Hawlina, Marko
Jarc Vidmar, Martina
Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
title Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
title_full Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
title_fullStr Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
title_full_unstemmed Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
title_short Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study
title_sort natural history of stargardt disease: the longest follow-up cohort study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379489/
https://www.ncbi.nlm.nih.gov/pubmed/37510299
http://dx.doi.org/10.3390/genes14071394
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