Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.
PMID 38155670 | PMCID PMC10752277 | DOI 10.4103/sjopt.sjopt_168_23 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2023 · View on PubMed ↗
Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life. It manifests as an early onset and severe form of retinitis pigmentosa. There are currently no effective treatments for RPGR-related retinopathy; however, there are multiple clinical trials in progress exploring gene augmentation therapy aimed at slowing down or halting the progression of disease and possibly restoring visual function. This review focuses on the molecular biology, clinical manifestations, and the recent progress of gene therapy clinical trials.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGR | “Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life.” | 0.98 | phenotype_alias_lexicon_v2 |