Retina. 2023 Sep 5. doi: 10.1097/IAE.0000000000003920. Online ahead of print.

ABSTRACT

PURPOSE: RPGR-associated X-linked retinitis pigmentosa (RPGR-XLRP) is a rare and severe form of retinitis pigmentosa (RP) resulting in progressive visual impairment; however, disease progression data are limited. A systematic literature review was conducted to assess available data on disease progression in RPGR-XLRP.

METHODS: PubMed, EMBASE, and select congress abstracts were evaluated through June 2022. Eligible studies included results specific to RPGR-XLRP or populations with ≥80% of RP patients carrying disease-causing RPGR variants. Endpoints of interest included visual acuity (VA), visual field (VF), ellipsoid zone width (EZW), progression to blindness, and patient-reported outcomes (PROs).

RESULTS: Fourteen studies met ≥1 endpoint of interest. Progressive declines in VA, VF, and EZW were reported across studies. Nearly all publications reported annual declines in VA (3.5%-8.2%). Annual VF declines ranged from 4.2% to 13.3%. Changes in retinal structure were also observed (EZW changes: -177 to -830 μm/y). Most studies measured blindness using VA; VF-based definitions resulted in blindness by age ∼25 years. PRO data were limited.

CONCLUSION: Published evidence shows that patients with RPGR-XLRP experience progressive decline in VA, VF, and EZW, eventually resulting in blindness. Additional longitudinal data with standardized endpoints and expanded collection of PROs are needed to assess visual decline in RPGR-XLRP.

PMID:37683184 | DOI:10.1097/IAE.0000000000003920