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Article

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.

European journal of ophthalmology - 1 Jan 2000

Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F

Abstract excerpt

PURPOSE: To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene. METHODS: PRPF8 gene analysis and complete ophthalmologic examination in an ADRP family. RESULTS: Clinical examination revealed the typical RP phenotype in all family members. Electroretinography showed preserved ERG photopic responses....

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Source

Identifiers

PMID: 17061239
DOI: 10.1177/112067210601600524

Genes

PRPF8
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.PMID 17061239Read ↗

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