NONDETECTABLE CONE AND ROD ELECTRORETINOGRAPHIC RESPONSES IN A PATIENT WITH COCKAYNE-SYNDROME

A 10-year-old girl complained of poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural heari ng loss, cutaneous photosensitivity, hyperopia, poor pupillary dilatio n, exotropia, salt-and-pepper fundi, nondetectable cone and rod electr oretinographic (ERG) responses, cerebral atrophy on computed tomograph y, and demyelination of periventricular white matter on magnetic reson ance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon .