title: Abnormal ocular electrophysiology in Sjögren-Larsson syndrome.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Chacha Nehru Bal Chikitsalya, New Delhi, India.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Sharma
authors.forename: Zia
authors.initials: Z
authors.lastname: Chaudhuri
authors.forename: Usha K
authors.initials: UK
authors.lastname: Raina
authors.forename: Basudeb
authors.initials: B
authors.lastname: Ghosh
authors.forename: Sumita
authors.initials: S
authors.lastname: Sethi
mesh_terms: 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