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Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India
- Source :
- Indian Journal of Ophthalmology, Vol 71, Iss 6, Pp 2512-2520 (2023)
- Publication Year :
- 2023
- Publisher :
- Wolters Kluwer Medknow Publications, 2023.
-
Abstract
- Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel-based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single-center study of 107 RP patients who had undergone next-generation sequencing-based targeted gene panel testing for IRD genes. These patients were inspected for common phenotypic features to arrive at meaningful genotype–phenotype correlation. Methods: Patients underwent complete ophthalmic examination, and blood was collected from the proband for DNA extraction after documenting the pedigree. Targeted Next Generation Sequencing (NGS) was done by panel-based testing for IRD genes followed by co-segregation analysis wherever applicable. Results: Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 ± 12 years (range: 5–55). Mean (Best Corrected Visual Acuity) BCVA was 6/48 (0.9 logMAR) (range 0.0–3.0). At presentation, over one-third of eyes had BCVA worse than 6/60 (
Details
- Language :
- English
- ISSN :
- 03014738 and 19983689
- Volume :
- 71
- Issue :
- 6
- Database :
- Directory of Open Access Journals
- Journal :
- Indian Journal of Ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.81d15926a5940d990667136de640bb4
- Document Type :
- article
- Full Text :
- https://doi.org/10.4103/IJO.IJO_2579_22