Genetics of retinitis pigmentosa and other hereditary retinal disorders in Western Switzerland Article Swipe
Giovanni Conti
,
Veronika Vaclavik
,
Carlo Rivolta
,
Pascal Escher
,
Daniel F. Schorderet
,
Francis L. Munier
,
Hoai Viet Tran
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1159/000536036
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1159/000536036
Introduction: Mutational screening of inherited retinal disorders is prerequisite for gene targeted therapy. Our aim is to report and analyze the proportions of mutations in inherited retinal disease (IRD) causing genes from a single center in Switzerland in order to describe the distribution of IRDs in Western Switzerland. Methods: We conducted a retrospective study of patient records. Criteria for inclusion were residence in Western Switzerland for patients and relatives presenting a clinical diagnosis of IRDs and an established molecular diagnosis managed by the genetics service of the Jules-Gonin Eye Hospital (JGEH) of Lausanne between January 2002 and December 2022. We initially investigated the IRD phenotypes in all patients (full cohort) with a clinical diagnosis, then calculated the distribution of IRD gene mutations in the entire cohort (genetically determined cohort). We analyzed a sub-group that comprised pediatric patients (≤ 18 years of age). In addition, we calculated the distribution of gene mutations within the most represented IRDs. Comprehensive gene screening was performed using a combined approach of different generation of DNA microarray analysis, direct sequencing and Sanger sequencing. Results: The full cohort comprised 899 individuals from 690 families with a clinical diagnosis of IRDs. We identified 400 individuals from 285 families with an elucidated molecular diagnosis (variants in 84 genes) in the genetically determined cohort. The pediatric cohort included 89 individuals from 65 families with an elucidated molecular diagnosis. The molecular diagnosis rate for the genetically determined cohort was 58.2 % (family ratio) and the 5 most frequently implicated genes per family were ABCA4 (11.6 %), USH2A (7.4 %), EYS (6.7 %), PRPH2 (6.3 %) and BEST1 (4.6 %). The pediatric cohort had a family molecular diagnosis rate of 64.4 % and the 5 most common mutated genes per family were RS1 (9.2 %), ABCA4 (7.7 %), CNGB3 (7.7 %), CACNA1F (6.2 %), CEP290 (4.6 %). Conclusions: This study describes the genetic mutation landscape of IRDs in Western Switzerland in order to quantify their disease burden and contribute to a better orientation of the development of future gene targeted therapies.
Related Topics
Concepts
Retinitis pigmentosa
Cohort
ABCA4
Sanger sequencing
Genetics
Medicine
Medical genetics
Biology
Pediatrics
Mutation
Gene
Internal medicine
Phenotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1159/000536036
- OA Status
- diamond
- Cited By
- 8
- References
- 31
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W771562940
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W771562940Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1159/000536036Digital Object Identifier
- Title
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Genetics of retinitis pigmentosa and other hereditary retinal disorders in Western SwitzerlandWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
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2023Year of publication
- Publication date
-
2023-12-29Full publication date if available
- Authors
-
Giovanni Conti, Veronika Vaclavik, Carlo Rivolta, Pascal Escher, Daniel F. Schorderet, Francis L. Munier, Hoai Viet TranList of authors in order
- Landing page
-
https://doi.org/10.1159/000536036Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
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diamondOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1159/000536036Direct OA link when available
- Concepts
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Retinitis pigmentosa, Cohort, ABCA4, Sanger sequencing, Genetics, Medicine, Medical genetics, Biology, Pediatrics, Mutation, Gene, Internal medicine, PhenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
8Total citation count in OpenAlex
- Citations by year (recent)
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2025: 5, 2023: 2, 2022: 1Per-year citation counts (last 5 years)
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31Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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