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>: A 67-year-old woman (P.P.) was in...

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Hlavní autoři:	Marco Piergentili, Vito Spagnuolo, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Elisabetta Pelo, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2024-05-01
Edice:	Medicina
Témata:	<i>CRX</i> gene late-onset retinal dystrophy pericentral retinitis pigmentosa sector retinitis pigmentosa genotype
On-line přístup:	https://www.mdpi.com/1648-9144/60/5/797
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