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CHARGE SYNDROME-WHAT DOES IT MEAN?? A Closer Look at Coloboma (C) By Amanda Bowdoin What is Charge Syndrome? CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family. Babies with CHARGE syndrome are often born with lifethreatening birth defects, including complex heart defects and breathing problems. microphthalmos (small eyes) or anophthalmos (missing eye): This will also cause vision Loss. This occurs about 80 to 90% of CHARGE Children. The above picture is of the coloboma of the iris. Most have hearing loss, vision loss, and balance problems which delay their development and communication. All are likely to require medical and educational intervention for many years. The letters in CHARGE stand for: Coloboma of the eye, The picture above is a normal human retina. Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Major Features of CHARGE Syndrome (C) C-Coloboma of the eye- Coloboma of the iris, retina, choroid, macula or disc (not the eyelid); The picture above is a retinal coloboma. TREATMENT: There is no cure for coloboma. This condition should be monitored according to the complexity of the eye involvement. There is a small increased risk of detached retina or glaucoma. Children with colobomas frequently develop a need for glasses or contact lenses. Early detection and treatment can prevent further vision loss due to the child ignoring the eye that needs stronger glasses. References Cassin,Barbara and Melvin L. Rubin, MD, Editor. Dictionary of Eye Terminology. 5th Edition. 2006 Page 69. Goldberg,M.D., Stephen and William Trattler, M.D. ; Ophthalmology Made Ridiculously Simple. 4th Edition. 2008 . Page 78. McKinney, Bill, PhD. Exective director. Program in Low Vision Terapy. Region 4 ESC. 2004. Page 9. www.chargesyndrome.org. 141 Middle Neck Rd · Sands Point, NY 11050 · 800-442-7604. Copyright 1993-2008 CHARGE Syndrome Foundation. McMain,Karen , Johane Robitaille, Isabel Smith, Judy Johnson, Ellen Wood, Francois Tremblay, Kim Blake. Ocular features of CHARGE syndrome, 06 May 2008. Journal of AAPOS. DOI:10.1016/j.jaapos.2008.02.009