Abnormal ocular electrophysiology in Sjögren-Larsson syndrome.
Two siblings who were born out of consanguineous marriage in an Indian family and had typical clinical manifestations of Sjögren-Larsson syndrome were found to have normal electroretinogram and abnormal visual evoked potential results. Abnormal visual evoked potential results along with the presence of distinctive foveal and parafoveal deposits, which could have a prognostic bearing on the visual acuity of the patients, emphasize the importance of a complete ophthalmological and electrophysiological evaluation in all patients with Sjögren-Larsson syndrome.
Sharma
Pankaj
P
Department of Ophthalmology, Chacha Nehru Bal Chikitsalya, New Delhi, India.
Chaudhuri
Zia
Z
Raina
Usha K
UK
Ghosh
Basudeb
B
Sethi
Sumita
S
D002675:Child, Preschool; D003241:Consanguinity; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005124:Eye Abnormalities / Q000175:diagnosis*; D005139:Eyeglasses; D005260:Female; D006801:Humans; D007223:Infant; D010775:Photic Stimulation; D012160:Retina / Q000002:abnormalities*; D035781:Siblings; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis*; D014786:Vision Disorders / Q000175:diagnosis / Q000628:therapy