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Neurovisual Function in CHARGE Syndrome

I

Institute of Hospitalization and Scientific Care (IRCCS)

Status

Enrolling

Conditions

CHARGE Syndrome

Treatments

Behavioral: visual function evaluation

Study type

Observational

Funder types

Other

Identifiers

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

Trial contacts and locations

1

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Central trial contact

Giuseppe Zampino, medicine

Data sourced from clinicaltrials.gov

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