Ocular features of Sjogren-Larsson syndrome.
Sjogren-Larson syndrome is a rare autosomal recessive neurocutaneous disorder characterized by a triad of intellectual disability, spastic diplegia or tetraplegia and congenital ichthyosis with associated ocular features, which include pigmentary changes in the retina. The usual presentation of crystalline maculopathy is from the age of 1-2 years onwards. Herein, a case of Sjogren-Larson syndrome in a 25-year-old woman is presented to highlight the ocular findings.
Aslam
Sher A
SA
Sheth
Hiten G
HG
D000328:Adult; D005260:Female; D006801:Humans; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis*; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis*