XLRP

Disease Category: x-linked

Patient Population: 20,000 (US & Europe)

Active Clinical Trials: 17

Treatment Options: Nothing approved

Strategies to Preserve Eye Health: Protection from UV exposure; vitamin supplements, in some cases

Institution(s) Conducting Research: University of Texas, Houston, Radboud University, University of Alberta, Casey Eye Institute

A FACE OF RP

TBD

Brooklyn, NY

BRIEF DESCRIPTION

X-linked retinitis pigmentosa (XLRP) is a rare, inherited genetic eye disease that causes gradual vision loss and eventually blindness. It's caused by a mutation in the RPGR gene on the X chromosome, which affects men and women differently.

XLRP is a severe form of retinitis pigmentosa (RP), a group of rare genetic eye diseases that damage light-sensitive cells in the retina. The most common type of RP is autosomal recessive, which affects about 50–60% of people with RP.

IN THE NEWS

Mar 14

Gene Therapy Improves Functional Measures in XLRP

Patients with XLRP treated with AGTC-501 gene therapy experienced improvements in visual function including retinal sensitivity . . .

Jan 31

A Systematic Literature Review of Disease Progression Reported in RPGR-associated X-Linked Retinitis Pigmentosa

A systematic literature review was conducted to assess available data on disease progression in RPGR-associated XLRP.

Jun 9, 2023

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

Formulate recommendations for designing XLRP gene therapy clinical studies to provide the best chance of successful treatment development.

Jan 24, 2022

RPGR and X-linked Retinitis Pigmentosa

Among the most common genetic causes of IRDs are mutations in the RPGR gene located on the X-chromosome.

Sep 4, 2020

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa

Investigate X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice

Jul 1, 2018

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure

The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.

Nov 25, 2016

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen | Scientific Reports | 6 | 37840 | 25...

Apr 3, 2003

X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15

RPGR mutations were assessed in families with XLRP and a strategy for analyzing highly repetitive mutational hot spots in exon ORF15.