Visual‐related quality of life in patients with inherited retinal dystrophies ‐ a baseline for assessing clinical trial efficacy

Abstract

Abstract Purpose To analyze visual‐related quality of life (VRQL) in patients with inherited retinal dystrophies. Methods The National Eye Institute Visual Functioning Questionnaire (NEI‐VFQ‐25), using a German validated version, was administered to patients with macular dystrophy (8), retinitis pigmentosa (34), Stargardt disease (31), Usher I and II types (10), central areolar choroidal dystrophy (3), cone (4) and cone‐rod dystrophies (13), choroideremia (2), Leber congenital amaurosis (1) and CSNB (2). Visual field (VF) data and BCVA in logMAR were obtained. The mean and standard deviations were calculated. Results 108 patients (62 men/46 women) were studied. The mean age was 39,5 (SD=1,5). The mean composite score was 59 (SD=13,7). The most reduced subscales were role limitations (35,9; SD=18,8), mental health (30,3; SD=15,6) and dependence on others (26,12; SD=20,7). Social functioning (69,2; SD=22,6), ocular pain (79,3; SD=19,96), and color vision (82,5; SD=26,2) were least reduced. The peripheral vision score was significantly lower in patients with concentric VF constriction (p<0,0076). Those with a lower BCVA had decreased general (p<0,0251), near (p<0,003), distance vision (p<0,03), and social functioning (p<0,0069) scores. Conclusion The composite score, role limitations, mental health, and dependence subscales were the most reduced. The lower peripheral vision score was associated with concentric VF constriction. Lower general, near, distance vision, and social functioning scores were linked to BCVA decrease. The results of this study can be used as a baseline for the assessment of clinical trials efficacy. Supported by Kerstan Foundation and EuroVisionNet EU Grant Health‐F2‐2008‐200641.