E59-Novel RCBTB1 variants and late-onset retinal dystrophy- Dr. Brian Ballios
- Author
- Dr. Keyvan Koushan
- Published
- Mon 21 Mar 2022
- Episode Link
- http://theretinachannel.com/e59-novel-rcbtb1-variants-and-late-onset-retinal-dystrophy-dr-brian-ballios
Dr. Ballios discusses his group's findings on novel mutations in the RCBTB1 gene that can cuase late-onset non-syndromic retinal dystrophies mimicking macular degeneration.
Full article:
Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 Jan 20:1-8. doi: 10.1080/13816810.2021.2023196. Epub ahead of print. PMID: 35057699.
