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Article

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Investigative ophthalmology & visual science - 1 Dec 2020

Di Iorio Valentina, Karali Marianthi, Melillo Paolo, Testa Francesco, Brunetti-Pierri Raffaella, Musacchia Francesco, Condroyer Christel, Neidhardt John, Audo Isabelle, Zeitz Christina, Banfi Sandro, Simonelli Francesca

Abstract excerpt

Purpose: The purpose of this study was to perform a detailed longitudinal phenotyping of X-linked retinitis pigmentosa (RP) caused by mutations in the RPGR gene during a long follow-up period. Methods: An Italian cohort of 48 male patients (from 31 unrelated families) with RPGR-associated RP was clinically assessed at a single center (mean follow-up = 6.5 years), including measurements of best-corrected visual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33372982
DOI: 10.1167/iovs.61.14.36
PMCID: PMC7774109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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