@article {1629462,
	title = {Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy},
	journal = {Ophthalmic Genet},
	volume = {43},
	number = {3},
	year = {2022},
	month = {2022 Jun},
	pages = {332-339},
	abstract = {BACKGROUND: Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotypic and phenotypic characteristics of biallelic RCBTB1-associated retinal dystrophy in a North American clinic population. METHODS: A retrospective analysis of genetic and clinical features was performed in individuals with biallelic variants in RCBTB1. RESULTS: Three unrelated individuals of French-Canadian descent with rare biallelic RCBTB1 variants were identified. All individuals shared a novel p.(Ser342Leu) missense variant; one patient was homozygous whereas the other two each possessed a second unique novel variant p.(Gln120*) and p.(Pro224Leu). All three had macula-predominant disease with symptom onset in the fifth decade of life. CONCLUSION: This report adds to the genetic diversity of RCBTB1-associated disease. These cases confirm the later-onset, relative to many other retinal dystrophies, and macular focus of disease described in most cases to-date. They are thus a reminder of considering hereditary disease in the differential for later-onset macular atrophy.},
	keywords = {Atrophy, Canada, Guanine Nucleotide Exchange Factors, Humans, Macular Degeneration, Pedigree, Phenotype, Retinal Dystrophies, Retrospective Studies},
	issn = {1744-5094},
	doi = {10.1080/13816810.2021.2023196},
	author = {Catomeris, Andrew J and Ballios, Brian G and Sangermano, Riccardo and Wagner, Naomi E and Comander, Jason I and Pierce, Eric A and Place, Emily M and Bujakowska, Kinga M and Huckfeldt, Rachel M}
}
