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Article

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

International journal of molecular sciences - 13 Nov 2024

Ogorodova Natalya, Stepanova Anna, Kadyshev Vitaly, Kuznetsova Svetlana, Ismagilova Olga, Chukhrova Alena, Polyakov Aleksandr, Kutsev Sergey, Shchagina Olga

Abstract excerpt

Pathogenic variants in the USH2A gene are the primary cause of both non-syndromic autosomal recessive inherited retinitis pigmentosa (RP) and the syndromic form, characterized by retinal degeneration and sensorineural hearing loss. This study presents a comparative assessment of the genetic variant spectrum in the USH2A gene among Russian patients in two clinical groups. A retrospective analysis was conducted on...

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Identifiers

PMID: 39596236
DOI: 10.3390/ijms252212169
PMCID: PMC11595071

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