Sanders, Francis and Votruba, Marcela  ORCID: https://orcid.org/0000-0002-7680-9135
2025.
Genetic landscape of inherited retinal dystrophies in a Welsh tertiary referral centre.
British Journal of Ophthalmology
10.1136/bjo-2024-327049
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Abstract
Background/aims Inherited retinal dystrophies (IRD) are a group of predominantly monogenic disorders which have genetically heterogeneous origins and display wide clinical phenotypic heterogeneity. The current study describes the clinical diagnoses, demographics and genetic aetiology of a cohort of Welsh patients to provide insight into the rates of genetic diagnosis of IRD. This will help inform patient prognosis and counselling in future clinical encounters. Methods A comprehensive database of patients attending the tertiary referral clinic from January 2011 to December 2023 was compiled contemporaneously. Demographic data were collated from patients’ clinical records. Subjects underwent genetic screening, including targeted gene sequencing, next-generation sequencing-based gene panel or whole exome sequencing, to investigate the causative pathogenic variants. Results A total of 403 probands (207 men and 196 women) were ascertained. The mean age at which the patients developed visual symptoms related to IRD was 43±18.1 years (range, 1–86 years). Retinitis pigmentosa (187; 46.4%), macular dystrophy (115; 28.5%) and cone rod dystrophy (41; 10.2%) were the most common clinical diagnoses. Among all the subjects, genetic pathogenic variants were identified in 166 (41%) patients. Pathogenic variants were identified in 49 retinal genes, with the most commonly affected genes being ABCA4, USH2A and GUCY2D. Conclusion The establishment of a molecular genetic diagnosis in this group of patients serves as a basis for genetic counselling and will allow patients to enrol in current and future gene-based clinical trials and benefit from any future novel therapeutic interventions and treatments.
| Item Type: | Article |
|---|---|
| Date Type: | Published Online |
| Status: | In Press |
| Schools: | Schools > Optometry and Vision Sciences |
| Publisher: | BMJ Publishing Group |
| ISSN: | 0007-1161 |
| Date of First Compliant Deposit: | 25 June 2025 |
| Date of Acceptance: | 3 May 2025 |
| Last Modified: | 26 Jun 2025 13:00 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/179314 |
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