1. and its visual implications
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 The
acronym is associated with each system
that can be affected by the disorder.

4. Coloboma of the eyes (affecting areas of the eye including the iris, retina, or disc)
Heart defect
Atresia of the choanae (closure of the passages from the back of the nose to the throat)
Retardation of growth and/or development
Genital Hypoplasia (under developed or deformities of the genitals)
Ear malformations

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 >50% Common 90%
Coloboma of the eye
Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS
80%-90%
Choanal atresia or stenosis
The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous
50%-60%
Cranial nerve abnormalities
Missing or decreased sense of smell
Swallowing difficulties, aspiration 
Facial palsy (one side or both)
90-100%
70%-90%
40%
CHARGE outer ear
CHARGE middle ear
Short, wide ear with little or no lobe, "snipped off" helix (outer fold)
Malformed bones of the middle ear (ossicles): causes Conductive Hearing Loss
>50%
Common
CHARGE inner ear
Malformed cochlea; small or absent semicircular canals: cause hearing loss and balance problems
90%

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

14. The Charge Syndrome Foundation
Normal Retina
Photos courtesy of
The Charge Syndrome Foundation

15. The Charge Syndrome Foundation
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
Bent, Donna. CHARGE syndrome information: vision. Retrieved July 18, 2011 from
Pagan, Roberta The eyes in CHARGE: For the Ophthalmologist. Retrieved from