Functional Vision Analysis in Patients With CHARGE Syndrome.

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• CHARGE syndrome is a complex genetic disorder affecting multiple systems.
• Ocular anomalies, particularly coloboma, are common and significantly impact vision.
• Assessing functional vision in this population presents unique challenges.

Purpose of the Study:

• To evaluate the utility of the novel VISIOCHARGE questionnaire for assessing functional vision in patients with CHARGE syndrome.
• To correlate questionnaire-derived scores with objective visual acuity measurements.
• To investigate the relationship between visual function and the severity of ocular malformations.

Main Methods:

• Retrospective chart review of ophthalmological data (visual acuity, fundus description) for 83 CHARGE syndrome patients.
• Prospective administration of the VISIOCHARGE questionnaire to 55 patients; 36 responded.
• Calculation of distance vision, near vision, and overall ability scores from questionnaire data.

Main Results:

• Mean visual acuity in a subset of patients was 20/50.
• VISIOCHARGE distance and near vision scores correlated significantly with visual acuity (P = .002 and P = .005).
• These scores were also associated with the severity of colobomatous malformation (P = .049 and P = .008).

Conclusions:

• The VISIOCHARGE questionnaire is a feasible tool for assessing visual function in CHARGE syndrome.
• Functional vision in everyday life appears better than suggested by initial fundus examinations, even with bilateral colobomas.
• The questionnaire provides valuable insights into the practical visual capabilities of individuals with CHARGE syndrome.