The eye in the CHARGE association

Abstract

CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.