E59-Novel RCBTB1 variants and late-onset retinal dystrophy- Dr. Brian Ballios
The Retina Channel Podcast · Dr. Keyvan Koushan
March 21, 202236m 59s
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Show Notes
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.