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The Visual Implications of CHARGE Syndrome

CHARGE Syndrome is a complex genetic disorder with various medical and physical difficulties. This article explores the visual implications of CHARGE, including vision impairments such as colobomas, blind spots, and visual field loss. It also discusses compensatory strategies and treatment options. 8 Relevant

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The Visual Implications of CHARGE Syndrome

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  1. CHARGE and its visual implications

  2. What is it? A genetic pattern of disorders that are diagnosed at birth. It is a very complex syndrome which can differ from child to child and also carries many medical and physical difficulties.

  3. History The collective name of recognizable patterns of birth defects was coined with the acronym CHARGE in 1981. The acronym is associated with each system that can be affected by the disorder.

  4. Colobomaof the eyes (affecting areas of the eye including the iris, retina, or disc) Heartdefect Atresia of the choanae (closure of the passages from the back of the nose to the throat) Retardationof growth and/or development GenitalHypoplasia (under developed or deformities of the genitals) Earmalformations

  5. Cause CHARGE is an autosomal dominant genetic disorder which is typically caused by the mutation or deletion of the CHD7 gene . The cause of CHARGE is not known. It typically does not occur in more than one person in a family.

  6. Major Features Feature Includes Frequency

  7. Visual Implications Children with CHARGE often have vision impairments due to colobomas. Most children with colobomas have a visual field loss, typically in the superior (upper) field. There may be blind spots and acuity problems in addition to visual field loss.

  8. Visual Implications Iris colobomas can result in extra sensitivity to bright lights, even indoors. In many cases, one eye is more severely affected than the other, causing monocular vision and lack of depth perception.

  9. Visual Implications Colobomas of the retina can cause a defect in the upper visual field. There may also be a predisposition to retinal detachment .

  10. Visual Implications Colobomas of the macular and or optic disc usually affects visual acuity significantly.

  11. Visual Implications With a field loss or monocular vision, it is difficult to follow a line smoothly or a series of lines systematically. Reading or any type of precise near reading work is both challenging and fatiguing.

  12. Visual Implications A visual field loss also requires a child to scan systematically in order to receive the full visual picture. In an educational setting, visual information may come from: • teacher instruction/chalkboard (distance), • handouts (close up). • computer projections (distance)

  13. Coloboma of the iris Photos courtesy of The Charge Syndrome Foundation

  14. Normal Retina Photos courtesy of The Charge Syndrome Foundation

  15. Retinal Coloboma Photos courtesy of The Charge Syndrome Foundation

  16. Compensatory Strategies • Large print, bold lines, underlining, or a line marker can be • Overlays • Glasses • Magnifying bars and binoculars • Sunshades ( if sensitive to light) • Placement of material in the upper or lower visual field depending on the location of the deficit

  17. Treatment Since symptoms of CHARGE vary by child, treatments vary. However, it is important that appropriate screenings/ tests, therapies, medications, etc are accessed in a timely manner and maintained.

  18. References • http://www.chargesyndrome.org/about-charge.asp • http://emedicine.medscape.com/article/942350-overview • http://www.tsbvi.edu/seehear/issue11-96/CHARGE%20Syndrome.htm • Bent, Donna. CHARGE syndrome information: vision. Retrieved July 18, 2011 from http://www.chargesyndrome.org/professional%20packet/9%20vision.pdf • Pagan, Roberta. 1999.The eyes in CHARGE: For the Ophthalmologist. Retrieved from http://www.chargesyndrome.org/manual/Eyes.pdf

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