{"id":2089,"date":"2025-08-04T12:29:23","date_gmt":"2025-08-04T12:29:23","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2089"},"modified":"2026-02-22T01:01:50","modified_gmt":"2026-02-22T01:01:50","slug":"biallelic-loss-of-function-variants-in-c19orf44-lead-to-retinal-degeneration","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/04\/biallelic-loss-of-function-variants-in-c19orf44-lead-to-retinal-degeneration\/","title":{"rendered":"Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration (Contributed by Dr. Hafiz Muhammad Jafar Hussain)"},"content":{"rendered":"

Inherited retinal diseases (IRDs) are genetic conditions that cause progressive vision loss. Many cases remain unsolved due to unidentified genetic causes. In this study, researchers used advanced genetic testing and eye imaging to investigate such cases and discovered diseasecausing variants in a previously unlinked gene, C19orf44. This gene has not been associated with any disease before, and its function and biological pathway remain unknown. Three unrelated patients from different regions of the world were found to have disease causing mutations in C19orf44, presenting with vision loss similar to Stargardt disease. These findings expand the genetic landscape of IRDs and supports improved diagnosis and counseling. (https:\/\/jmg.bmj.com\/content\/early\/2025\/07\/31\/jmg-2025-110681<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Inherited retinal diseases (IRDs) are genetic conditions that cause progressive vision loss. Many cases remain unsolved due to unidentified genetic causes. In this study, researchers used advanced genetic testing and eye imaging to investigate such cases and discovered diseasecausing variants in a previously unlinked gene, C19orf44. This gene has not been associated with any disease […]<\/p>\n

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Many cases remain unsolved due to unidentified genetic causes. In this study, researchers used advanced genetic testing and eye imaging to investigate such cases and discovered diseasecausing variants in a previously unlinked gene, C19orf44. 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