Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients

<i>Purpose</i>: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p.Tyr142Cys) heterozygous mutation in the cone–rod homeobox gene (<i>CRX</i> gene) in two unrelated Italian patients. <i>Case 1</i...

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Bibliographic Details
Main Authors: Marco Piergentili, Vito Spagnuolo, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Elisabetta Pelo, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi
Format: Article
Language:English
Published: MDPI AG 2024-05-01
Series:Medicina
Subjects:
<i>CRX</i> gene
late-onset retinal dystrophy
pericentral retinitis pigmentosa
sector retinitis pigmentosa
genotype
Online Access:https://www.mdpi.com/1648-9144/60/5/797

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https://www.mdpi.com/1648-9144/60/5/797

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