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Article

Retinitis Pigmentosa Due to Rp1 Biallelic Variants.

Scientific reports - 31 Jan 2020

Silva Rita Sousa, Salles Mariana Vallim, Motta Fabiana Louise, Sallum Juliana Maria Ferraz

Abstract excerpt

In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre and included in the study. They had classic retinitis pigmentosa with diagnosis at the first decade of life. The visual acuities were severely affected at a young age. The fundus aspects...

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Identifiers

PMID: 32005865
DOI: 10.1038/s41598-020-58243-9
PMCID: PMC6994576

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