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Ocular features of Sjogren–Larsson syndrome
Author(s) -
Aslam Sher A,
Sheth Hiten G
Publication year - 2007
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/j.1442-9071.2007.01425.x
Subject(s) - medicine , congenital ichthyosis , spastic diplegia , ichthyosis , dermatology , photophobia , presentation (obstetrics) , pediatrics , ophthalmology , surgery , psychiatry , cerebral palsy
A bstract 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.