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Article

Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.

Ophthalmic genetics - 1 Jun 2021

Fowler Nicholas H, El-Rashedy May I, Chishti Emad A, Vander Kooi Craig W, Maldonado Ramiro S

Abstract excerpt

Background: Atypical Usher syndrome has recently been associated with arylsulfatase G (ARSG) variants. In these cases, characteristic findings include progressive sensorineural hearing loss (SNHL) without vestibular involvement and ring-shaped late-onset retinitis pigmentosa (RP).Materials and Methods: One patient with atypical Usher syndrome and a novel homozygous ARSG variant was included in this study. The...

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Identifiers

PMID: 33629623
DOI: 10.1080/13816810.2021.1891552
PMCID: PMC8154670

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