Nondetectable cone and rod electroretinographic responses in a patient with Cockayne syndrome.
A 10-year-old girl complained or poor vision in both eyes. The patient showed progeria, physical and mental retardation, sensorineural hearing loss, cutaneous photosensitivity, hyperopia, poor pupillary dilation, exotropia, salt-and-pepper fundi, nondetectable cone and rod electroretinographic (ERG) responses, cerebral atrophy on computed tomography, and demyelination of periventricular white matter on magnetic resonance imaging. We believe that nondetectable cone and rod ERG responses in Cockayne syndrome, as demonstrated in our patient, may be uncommon.
Ikeda
N
N
Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan.
Yamamoto
S
S
Hayasaka
S
S
Fukuo
Y
Y
Koike
T
T
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D003057:Cockayne Syndrome / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008279:Magnetic Resonance Imaging; D017949:Retinal Cone Photoreceptor Cells / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed