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Mar 13, 2024
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, 2024
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 8, 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
Jun 30, 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.
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