Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic

Significance: CHARGE, named for common findings-coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies-is a frequent etiology of deaf-blindness. A retrospective review in a pediatric low vision clinic presented the opportunity to investigate ocular findings in this syndrome with variable clinical presentations.

Purpose: This retrospective study reviewed ocular findings and visual function measures from low vision evaluations of patients with CHARGE syndrome, which may influence their multidisciplinary management.

Methods: A retrospective chart review was conducted by three examiners of 60 patients presenting with CHARGE syndrome at a pediatric low vision clinic. Visual acuity and contrast sensitivity were obtained using standard measures. Ocular alignment and cycloplegic refractive error measurements were recorded. Refractive findings were analyzed using vector analysis. Anterior and posterior segment findings were recorded.

Results: Patients ranged in age from 1 to 29 years and were followed up for a mean of 4.3 years. Best-corrected visual acuity ranged from no light perception to 20/20 Snellen equivalent. Characteristics of strabismus, occurring in 82% of patients, were reported. Contrast sensitivity was reduced in 52% of patients. Chorioretinal colobomas were reported in 88% of patients. The most common ocular findings included nystagmus (43%), microphthalmia (27%), iris coloboma (27%), and facial nerve palsy (23%). Refractive vector analysis revealed significant myopic progression of the spherical equivalent with age and a tendency for with-the-rule astigmatism and minimal obliquity.

Conclusions: This retrospective review of a relatively large sample size for this rare condition outlined the most common ocular manifestations of CHARGE syndrome. Decreased visual acuity, myopic refractive error, strabismus, and reduced contrast sensitivity were common. Thus, careful optometric evaluation in this population is required, as these findings must be considered in appropriate clinical and habilitative management.