Functional Vision Analysis in Patients With CHARGE Syndrome

Purpose: To evaluate functional vision in patients with CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) by using a new questionnaire entitled VISIOCHARGE. Methods: Ophthalmological data including fundus description and visual acuity, when available, were extracted from the charts of 83 patients with CHARGE syndrome, and the VISIOCHARGE questionnaire was prospectively mailed to 55 of those patients. The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores. Results: Visual acuity measurements were extracted from the charts of 20 of the 36 patients. The mean visual acuity was 20/50. The mean distance vision score of 0.62 ± 0.30 and near vision score of 0.78 ± 0.23 were correlated with visual acuity in the 20 patients (ρ = 0.64, P = .002 and ρ = 0.61, P = .005, respectively) and were associated with the severity of colobomatous malformation (P = .049 and P = .008, respectively). Severity of the ocular malformation was not associated with the overall ability score (P = .64). Conclusions: The VISIOCHARGE questionnaire is feasible for patients with CHARGE syndrome and may help in the assessment of visual function. The mean visual acuity and answers to the VISIOCHARGE questionnaire showed relatively good visual skills in patients with CHARGE syndrome in everyday life, even in those with bilateral colobomas, which contrasts with the pessimistic conclusions usually resulting from the initial fundus examination. [J Pediatr Ophthalmol Strabismus. 2020;57(2):120-128.].