CHARGE Syndrome Ocular Manifestations Include Reduced Vision, Strabismus

CHARGE syndrome ocular manifestations include reductions in visual acuity and contrast sensitivity and strabismus, according to a retrospective investigation published in Optometry and Vision Science. The condition, which is indicated by coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies (CHARGE) is the most frequent etiology of deaf-blindness, according to the report.

Researchers from the New England College of Optometry Center for Eye Care at Perkins School for the Blind reviewed ocular findings from 60 patients (age range, 1-29 years) with CHARGE syndrome who presented to their center for a low vision evaluation. Study participants underwent visual acuity, contrast sensitivity, ocular alignment, and cycloplegic refractive error measurements. The team used vector analysis to analyze refractive findings and recorded anterior and posterior segment findings. The investigation sought to identify common CHARGE syndrome ocular manifestations among the cohort.

Overall, best-corrected visual acuity ranged from no light perception (3.0 logarithm of the minimum angle of resolution [logMAR]) to 20/20 Snellen equivalent. Strabismus was documented in 82% of participants, contrast sensitivity was reduced in 52% of patients, and chorioretinal coloboma were reported in 88% of patients. Among the CHARGE syndrome ocular manifestations noted in participants, the most common included nystagmus (43%), microphthalmia (27%), iris coloboma (27%), and facial nerve palsy (23%). Refractive vector analysis revealed a significant spherical equivalent myopia progression with age and a tendency for astigmatism and minimal obliquity, according to the report.

“Decreased visual acuity, significant refractive error, strabismus, and reduced contrast sensitivity are common findings and require careful evaluation in the CHARGE population as these findings may have significant impact on visual ability,” according to the study authors. “Providers should consider large font, enhanced contrast, and recommendations for visually assistive equipment in this population due to the large range of visual impairments. Additionally, sharing this data and facilitating referrals to members of a multidisciplinary habilitation team is important.”

Study limitations include a lack of comprehensive genetic information and visual field data for all participants and the use of multiple methods for obtaining visual acuity and ocular alignment measurements to identify CHARGE syndrome ocular manifestations.

Disclosure: One study author declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors’ disclosures.