Abstract：
OBJECTIVE: 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 µ m/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.
CONCLUSIONS: 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.
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 µ m/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.
CONCLUSIONS: 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.
摘要：
目的：RPGR相关的X连锁视网膜色素变性（RPGR-XLRP）是一种罕见且严重的视网膜色素变性（RP），可导致进行性视力损害；疾病进展数据有限。进行了系统的文献综述，以评估RPGR-XLRP疾病进展的可用数据。
方法：PubMed，EMBASE,和部分国会摘要在2022年6月之前进行了评估。符合条件的研究包括RPGR-XLRP或≥80%RP患者携带致病RPGR变异的人群的特异性结果。感兴趣的终点包括视敏度（VA），视野(VF),椭球区宽度(EZW),进展为失明，和患者报告的结果（PRO）。
结果：14项研究达到了≥1个感兴趣的终点。VA的逐步下降，VF,和EZW在所有研究中都有报道。几乎所有出版物都报告了VA的年度下降（3.5％-8.2％）。VF年度下降范围为4.2%至13.3%。还观察到视网膜结构的变化(EZW变化:-177至-830μm/y)。大多数研究使用VA测量失明；基于VF的定义导致年龄约25岁的失明。PRO数据有限。
结论：已发表的证据表明RPGR-XLRP患者的VA逐渐下降，VF,还有EZW,最终导致失明。需要具有标准化终点和扩大的PRO收集的其他纵向数据来评估RPGR-XLRP的视觉下降。
方法：PubMed，EMBASE,和部分国会摘要在2022年6月之前进行了评估。符合条件的研究包括RPGR-XLRP或≥80%RP患者携带致病RPGR变异的人群的特异性结果。感兴趣的终点包括视敏度（VA），视野(VF),椭球区宽度(EZW),进展为失明，和患者报告的结果（PRO）。
结果：14项研究达到了≥1个感兴趣的终点。VA的逐步下降，VF,和EZW在所有研究中都有报道。几乎所有出版物都报告了VA的年度下降（3.5％-8.2％）。VF年度下降范围为4.2%至13.3%。还观察到视网膜结构的变化(EZW变化:-177至-830μm/y)。大多数研究使用VA测量失明；基于VF的定义导致年龄约25岁的失明。PRO数据有限。
结论：已发表的证据表明RPGR-XLRP患者的VA逐渐下降，VF,还有EZW,最终导致失明。需要具有标准化终点和扩大的PRO收集的其他纵向数据来评估RPGR-XLRP的视觉下降。
