The Eye In CHARGE
- Karen McMain, Orthoptist
- Dr. Johane Robitalle, Ophthalmology
- Dr. Kim Blake, Pediatrics
- Dr. Ellen Wood, Neurology
- Dr. Isabelle Smith, Psychology
- Dr. Francois Temblay, Electrodiagnositics
- Judi Johnston, APSEA Teacher
- Jill Beis, Genetic Councselor and Research Coordinator
Purpose
- Describe the presence and severity of the structural ocular abnormalities found in patients with CHARGE syndrome
- Define the sensorial ocular deficits in these patients
- identify any association b/w structural & sensorial deficits with visual function abnormality
- Rule out the possiblity that some of the performance on visual function tests are neurological in nature as opposed to related to visual deficits
- define the behavioural characteristics of CHARGE Syndrome that may be related to visual function
CHARGE Association
- first described by Hall et al in 1979
- acronym coined by Pagon et al 1981
- C = coloboma/cranial nerve involement
- H = heart defects
- A = choanal atresia
- R = growth and/or developmental retardation
- G = gential hypoplasia
- E = ear abnormalities
Major and Minor Characteristics
- c= coloboma
- c= choanal atresia
- c= characteristic ear abnormalities
- c= cranial nerve dysfunction
- genital hypoplasia
- developmental delay
- cardiovascular malformations
- grwoth deficiency
- orofacial cleft
- tracheoesophageal-fistual
- distinctive face
Etiology
- affects males and females equally
- incidence is 1 out of 10 000 - 12 000
- etiology is unknown
- teratongenic event
- deficiency in migration of neural crest cells, deficiency of mesodermal formation or defective interaction b/w neural crest cells & mesoderm that play a part in these defects of blastogenesis
- a few individuals have inverted duplication of 14q22-q24.3, microdeletion of chromosome 22q.11.2 and 9p-chromosomal defect
Subjects
- ages ranged from 2.5 to 25 years
- mean age was 9.1 years
- standard deviation 7.7
- # of females - 2
- # of males - 6
- identified 10 patients with CHARGE syndrome from Maritime Canada
- they were identified in the Canadian Pediatric Surveillance of CHARGE association (Blake et al 1998) who met the clinical profile
- one declined to participate, one is still to be tested, 8 volunteered for the study
Method
- opthomologic exam
- orthoptic assessment
- electrodiagnostic testing
- functional vision assessment
- neurological assessment
- stereopsis
- visual acuity
- cover test & measurements
- EOM
- Digital fundus photos, video, all position of gaze
- visual fields
- colour vision testing
- dilatd fundas exam
- refraction
- slit lamp exam
- visually evoked potential
- neurological exam
- functional vision assessment
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