Neurovisual Function in CHARGE Syndrome

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: CHARGE Syndrome

Treatments: Behavioral: visual function evaluation

Study type: Observational

Funder types: Other

Identifiers

NCT05764980

3373

Details and patient eligibility

About

The rationale of the study is to analyze visual function and correlate them with adaptive functions in patients with CHARGE syndrome in order to identify a pattern of specific indicators to enable better patient care

Full description

CHARGE syndrome is a malformative condition characterized by coloboma in about 70-95% of patients. This anatomical abnormality results in severe visual impairment that strongly affects the characterization of the disability profile.

Although the ocular anatomical deficits associated with the syndrome have been extensively described in the literature, coloboma being a major criterion for diagnosis, little is reported about the characteristics of visual function, such as acuity, visual field ocular motility, and other features.

Patients with CHARGE syndrome have multiple sensory deficif often accompanied by intellectual disability, which often makes the classical methods used in ophthalmologic evaluation inapplicable. According to the few studies in the literature, visual acuity in patients with CHARGE syndrome is often severely impaired with mean values below 20/60 (McMain et al 2008; Nishina et al 2012; Russell-Eggitt et al. 1990; Stromland et al. 2005; Tellier et al. 1998) However in opposition to the recurrent pessimistic findings resulting from ophthalmologic assessment in clinical practice, such patients present with good visual and adaptive abilities in daily life.

The rationale of the study is to analyze visual function and correlate them with adaptive functions in patients with CHARGE syndrome in order to identify a pattern of specific indicators to enable better patient care

Enrollment: 20 estimated patients

Sex: All

Ages: Under 90 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

Patients with molecularly confirmed CHARGE syndrome.

Exclusion criteria

Patients with CHARGE syndrome that has not been molecularly confirmed