Dataset Information

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

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.

SUBMITTER: Catomeris AJ

PROVIDER: S-EPMC9177531 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Publications

Novel <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

Catomeris Andrew J AJ Ballios Brian G BG Sangermano Riccardo R Wagner Naomi E NE Comander Jason I JI Pierce Eric A EA Place Emily M EM Bujakowska Kinga M KM Huckfeldt Rachel M RM

Ophthalmic genetics 20220120 3

<h4>Background</h4>Variants in <i>RCBTB1</i> 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 <i>RCBTB1</i>-associated retinal dystrophy in a North American clinic population.<h4>Methods</h4>A retrospective analysis of genetic and clinical features was performed in individuals with ...[more]

PMID: 35057699

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