and its visual implications

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.

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.

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

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.

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%

Feature Includes Frequency

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.

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.

Colobomas of the retina can cause a defect

in the upper visual field. There may also be

a predisposition to retinal detachment .

Colobomas of the macular and or optic disc

usually affects visual acuity significantly.

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.

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)

Coloboma of the iris

Photos courtesy of The Charge Syndrome Foundation

Normal Retina

Photos courtesy of The Charge Syndrome Foundation

Retinal Coloboma

Photos courtesy of The Charge Syndrome Foundation

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

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.

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