Ocular findings in CHARGE syndrome. Six case reports and a review

CHARGE syndrome is a group of nonrandomly occurring congenital anomalies which may present to the ophthalmologist, because coloboma is one of the major findings. In a series of 54 patients with ocular colobomata, 6 (11%) were found to meet the criteria for CHARGE syndrome. The mnemonic CHARGE stands for the major features of this syndrome: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or hearing loss. No specific etiology is known, but autosomal dominant, autosomal recessive, and X-linked recessive forms have been suggested by familial reports. The authors describe six patients with CHARGE syndrome, including the second reported case occurring in monozygotic twins. Other syndromes, chromosomal defects, and effects of teratogens may have similar clinical presentations. Though our prevalence may be skewed by our referral setting, the frequency of occurrence of this syndrome is certainly high enough that ophthalmologists should be familiar with it. Evaluation for associated defects should be carried out and referral for genetic evaluation undertaken when appropriate.