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The study included Turkish individuals with hereditary retinal diseases who visited the Medical Genetic Department of Erciyes University between 2019 and 2022. One proband per family was selected based on eligibility. We used Hereditary Disorder Solution (HDS) by Sophia Genetics and performed next\u2010generation sequencing (NGS) with Illumina NextSeq\u2010500. Bioinformatics analysis using Sophia DDM\u00ae SaaS algorithms and ACMG guidelines classified genomic changes. The study involved 354 probands. Disease\u2010causing variants were found in 58.1% of patients, with <jats:italic>ABCA4<\/jats:italic>, <jats:italic>USH2A<\/jats:italic>, <jats:italic>RDH12<\/jats:italic>, and <jats:italic>EYS<\/jats:italic> being the most frequently implicated genes. Forty\u2010eight novel variants were detected. This study enhances the knowledge of clinical diagnoses, symptom onset, inheritance patterns, and genetic details for Turkish individuals with hereditary retinal disease. It contributes to broader health strategies by enabling comparisons with other studies.<\/jats:p>","DOI":"10.1111\/cge.14529","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T05:10:55Z","timestamp":1712293855000},"page":"258-266","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Beyond the phenotype: Exploring inherited retinal diseases with targeted next\u2010generation sequencing in a Turkish cohort"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9594-2241","authenticated-orcid":false,"given":"Busra","family":"Ozguc Caliskan","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Erciyes University  Kayseri Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kubra","family":"Uslu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics 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