{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:21:49Z","timestamp":1787775709982,"version":"build-2784847793"},"reference-count":31,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:00:00Z","timestamp":1735257600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>Retrospective observational study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021. The clinical exome of the patients was analyzed by targeted next-generation sequencing. The genetic variants found were classified as per standard American College of Medical Genetics and Genomics (ACMG) criteria and ClinVar database.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      There were 35 patients (19 females, 16 males) of LCA. Family history was positive in 29% (10\/35) and a history of consanguinity was noted in 54% (19\/35) of the patients. The mean presenting best-corrected visual acuity was 2.48 \u00b1 0.59 logMAR. Retinal pigment epithelial abnormalities and macular involvement were seen in 83% (58\/70) and 23% (16\/70) of the eyes, respectively, at presentation. The most common causative genes for LCA in our cohort were:\n                      <jats:italic toggle=\"yes\">GUCY2D<\/jats:italic>\n                      (20%, 7\/35),\n                      <jats:italic toggle=\"yes\">CRB1 (<\/jats:italic>\n                      14%, 5\/35),\n                      <jats:italic toggle=\"yes\">RPE65 (<\/jats:italic>\n                      11%, 4\/35),\n                      <jats:italic toggle=\"yes\">RPGRIP1 (<\/jats:italic>\n                      11%, 4\/35), and\n                      <jats:italic toggle=\"yes\">LCA5 (<\/jats:italic>\n                      9%, 3\/35). Autosomal recessive inheritance was seen in 94% (33\/35). Macular involvement at presentation was seen in\n                      <jats:italic toggle=\"yes\">CRB1<\/jats:italic>\n                      (3\/5),\n                      <jats:italic toggle=\"yes\">NMNAT1<\/jats:italic>\n                      (2\/2), and one each of\n                      <jats:italic toggle=\"yes\">RPE65<\/jats:italic>\n                      ,\n                      <jats:italic toggle=\"yes\">LCA5<\/jats:italic>\n                      , and\n                      <jats:italic toggle=\"yes\">RDH12<\/jats:italic>\n                      patients. The genetic testing cost was reduced from 23,800 INR to 15,000 INR per test in the study duration.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Genetic screening of LCA cases identified various genotypes, with\n                      <jats:italic toggle=\"yes\">GUCY2D<\/jats:italic>\n                      being the most common. Increased awareness and reduced costs of genetic testing would benefit both patients and caregivers. With promising clinical trial outcomes, genotyping is crucial for better patient selection and treatment.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijo.ijo_545_24","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T10:00:27Z","timestamp":1735293627000},"page":"683-690","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center"],"prefix":"10.4103","volume":"73","author":[{"given":"Abhishek","family":"Upadhyaya","sequence":"first","affiliation":[{"name":"Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India"},{"name":"Standard Chartered \u2013 LVPEI Academy for Eye Care Education, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srikanta Kumar","family":"Padhy","sequence":"additional","affiliation":[{"name":"Vitreoretina and Uveitis Services, Anant Bajaj Retina Institute, Mithu Tulasi Chanrai Campus, L V Prasad Eye Institute, Bhubaneswar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nithin","family":"Teja","sequence":"additional","affiliation":[{"name":"Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India"},{"name":"Standard Chartered \u2013 LVPEI Academy for Eye Care Education, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goura","family":"Chattannavar","sequence":"additional","affiliation":[{"name":"Jasti V. Ramanamma Children\u2019s Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shreya","family":"Dutta","sequence":"additional","affiliation":[{"name":"Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatesh","family":"Pochaboina","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeyapoorani","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Kannabiran","sequence":"additional","affiliation":[{"name":"Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brijesh","family":"Takkar","sequence":"additional","affiliation":[{"name":"Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India"},{"name":"Indian Health Outcomes, Public Health and Economics Research Center, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjushree","family":"Bhate","sequence":"additional","affiliation":[{"name":"Jasti V. 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