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

Byron L. Lam, MD; Hendrik P. N. Scholl, MD; Daneal Doub, B.Sc, PharmaD; Marvin Sperling, MD; Mahmoud Hashim, PhD; Nan Li, PhD | The Journal of Retinal and Vitreous Diseases | January 2024 | DOI: 10.1097/IAE.0000000000003920


Purpose

Retinitis pigmentosa GTPase regulator–associated X-linked retinitis pigmentosa (RPGR-associated XLRP) is a rare and severe form of retinitis pigmentosa, 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-associated XLRP.


Methods

PubMed, Embase, and select congress abstracts were evaluated through June 2022. Eligible studies included results specific to RPGR-associated XLRP or populations with ≥80% of patients with retinitis pigmentosa carrying disease-causing RPGR variants. End points of interest included visual acuity, visual field, ellipsoid zone width, progression to blindness, and patient-reported outcomes.


Results

Fourteen studies met ≥1 end point of interest. Progressive declines in visual acuity, visual field, and ellipsoid zone width were reported across studies. Nearly all publications reported annual declines in visual acuity (3.5%–8.2%). Annual visual field declines ranged from 4.2% to 13.3%. Changes in retinal structure were also observed (ellipsoid zone width changes: −177 to −830 µm/year). Most studies measured blindness using visual acuity; visual field–based definitions resulted in blindness by age ∼25 years. Patient-reported outcome data were limited.


Conclusion

Published evidence shows that patients with RPGR-associated XLRP experience progressive decline in visual acuity, visual field, and ellipsoid zone width, eventually resulting in blindness. Additional longitudinal data with standardized end points and expanded collection of patient-reported outcomes are needed to assess visual decline in RPGR-associated XLRP.


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