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CHARGE syndrome (CS) includes coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies and ear anomalies. The authors developed an original self-administered questionnaire (VISIOcharge) for patients with CS and used it to evaluate the functional vision of patients with CS. Secondary aims were to describe the ocular features, analyse links between severity of ocular malformation and practical visual function and evaluate visual impairment versus developmental milestones. This retrospective study was over a 16-year period and identified 83 patients from two centres; 46 males. Ten were deceased and 18 lost to follow-up. The questionnaire was sent to 55 patients and 36 provided completed responses. Average age was 13.8 ±6.9 years. Mutation in the CHD7 gene was present for 31. Thirty-two patients had at least one ocular coloboma of the posterior segment. Four presented with unilateral retinal detachment and 27 with glasses. Twenty had visual acuity data with a mean of 0.42 logMAR. Thirty-two were able to use electronic devices such as phones and tablets, 31 were able to watch TV, 22 able to recognise faces >2m away and 19 able to read size 18 Arial characters at 40cms. The mean age for walking was 35.4 ±15 months. Visual acuity and overall ability scores were negatively correlated with educational attainment. Visual acuity was worse with greater severity of anatomical lesions. The authors conclude this study shows encouraging results and shows relatively good visual skills of these patients despite previous pessimistic outlooks. The full questionnaire is outlined in this paper.

Functional vision analysis in patients with CHARGE syndrome.
Martin GC, Robert MP, Challe G, et al.
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Fiona Rowe (Prof)

Institute of Population Health, University of Liverpool, UK.

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