OBJECTIVE: The purpose of the study was to evaluate vision-related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA).
METHODS: This cross-sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 mutation-free first-degree relatives and 92 healthy subjects unrelated to the families. Participants underwent a clinical eye examination, and adult participants completed the National Eye Institute Visual Function Questionnaire (NEI-VFQ-39), while children completed the Cardiff Visual Ability Questionnaire for Children (CVAQC).
RESULTS: In adults with ADOA, both mean visual acuity (VA) and mean contrast sensitivity (CS) were significantly inferior to both first-degree relatives and unrelated controls (p < 0.001). In children with ADOA, mean VA was significantly lower compared with first-degree relatives (p = 0.0052), whereas CS was not (0.127). Adults with ADOA scored lower than both comparator groups on composite score (p < 0.001), general health subscale (p = 0.0075) and all vision-related subscales (p < 0.001) except the ocular pain subscale (p = 0.2). In children with ADOA, the median CVAQC logit score was significantly lower compared with first-degree relatives (p = 0.037). The science lessons subscale was significantly lower for children with ADOA compared with first-degree relatives (p = 0.046), as well as the language lessons subscale (p = 0.038). For adults, composite score and subscale scores were significantly associated with both VA, CS and fixation status.
CONCLUSIONS: OPA1 mutation is associated with lower quality of life and visual ability in patients with ADOA compared with both first-degree relatives and unrelated controls. VA, CS and fixation status affect quality of life in patients with ADOA.

OBJECTIVE: To describe long-term objective and subjective visual outcomes in a group of Danish children after cataract surgery.
METHODS: Follow-up examination of 56 children aged 7-18 years who had undergone uni- or bilateral cataract surgery. Subjective visual function was assessed using the Cardiff Visual Ability Questionnaire for Children (CVAQC) and compared to objective visual acuity for distance and near, contrast vision and stereopsis.
RESULTS: Better visual acuity on the better seeing and contrast vision on worst seeing eye were significant predictors of increased subjective visual function in a multivariate analysis, p = 0.024. Children in the unilateral group had a significantly better CVAQC ratio compared to children in the bilateral group, median of 0.88 (range 0.50-1.00) versus 0.80 (range 0.55-0.98), p = 0.027. Reading small print, playing ball games and seeing friends in the playground were the most difficult CVAQC items in the unilateral group and reading small print, seeing the board in the classroom and seeing friends in the playground were the most difficult in the bilateral group.
CONCLUSIONS: Children with unilateral disease often have a healthy eye to support the operated eye, why they overall have better subjective visual function. Many of the most difficult visual tasks were related to academic activities which might hamper future academical capabilities.