JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
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Evaluation of vision-specific quality-of-life in albinism.

INTRODUCTION: Human albinism is a genetic condition associated with visual impairment that affects many aspects of daily life. Office measurements of visual acuity do not necessarily reflect daily visual function and health status. This study used the National Eye Institute Visual Function Questionnaire (NEI-VFQ) to determine the effect of albinism-associated ophthalmopathy on quality of life (QOL).

METHODS: We administered the NEI-VFQ, which consists of 25 questions about QOL (VFQ-25) and 14 questions about well-being (VFQ-39), to 44 consenting participants with albinism older than the age of 18 years.

RESULTS: Nineteen male and 25 female subjects completed the study. Median age was 30.5 years (range, 18-79 years). Mean best-corrected visual acuity was 20/83 (range, 20/20 to 20/320). Forty-eight percent reported that they were currently able to drive with their condition. Participants perceived midscale problems with their general vision (median subscale score 60.0). Visual acuity correlated moderately with overall NEI-VFQ composite scores (r(s) = 0.40, p = 0.01 for VFQ-25 and r(s) = 0.36, p = 0.02 for VFQ-39). Most notable impairment was recorded for distance acuity, vision-specific mental health, and vision-specific role difficulties (VFQ-39 median subscale scores 66.7, 70.0, and 75.0, respectively). Differences by sex were insignificant. Greater ceiling effects were noted for the VFQ-25 than for the VFQ-39.

CONCLUSIONS: The NEI-VFQ-39 is a method to evaluate self-reported effects of vision-related QOL in albinism and may be used as a baseline for evaluating outcomes in interventional studies in these patients.

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