{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:35:09Z","timestamp":1786649709053,"version":"build-2736575974"},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>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\u2013phenotype correlation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 \u00b1 12 years (range: 5\u201355). Mean (Best Corrected Visual Acuity) BCVA was 6\/48 (0.9 logMAR) (range 0.0\u20133.0). At presentation, over one-third of eyes had BCVA worse than 6\/60 (&lt;1 logMAR). Phenotype analysis with the gene defects showed overlapping features, such as peripheral well-defined chorioretinal atrophic patches in patients with\n                      <jats:italic toggle=\"yes\">CERKL<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">PROM1<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">RPE65<\/jats:italic>\n                      gene mutations and large macular lesions in patients with\n                      <jats:italic toggle=\"yes\">RDH12<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">CRX<\/jats:italic>\n                      gene mutations, respectively. Nummular or clump-like pigmentation was noted in\n                      <jats:italic toggle=\"yes\">CRB1<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">TTC8<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">PDE6A<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">PDE6B<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>NGS-based genetic testing can help clinicians to diagnose RP more accurately, and phenotypic correlations can also help in better patient counselling with respect to prognosis and guidance regarding ongoing newer gene-based therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijo.ijo_2579_22","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T09:03:27Z","timestamp":1686733407000},"page":"2512-2520","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India"],"prefix":"10.4103","volume":"71","author":[{"given":"Parveen","family":"Sen","sequence":"first","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natarajan","family":"Srikrupa","sequence":"additional","affiliation":[{"name":"SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, 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