Sjgren-larsson syndrome (oligophrenia ichthyosis spastic diplegia syndrome) 1

General: Rare; autosomal recessive; consanguinity; loss of neurons and gli 525f53f osis throughout gray matter; autosomal recessively inherited disorder characterized by the triad of congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation.

Ocular: Hypertelorism; ichthyosis of lid; chorioretinitis with macular and perimacular pigment degeneration or bright, glistening intraretinal dots; atypical retinitis pigmentosa; blepharitis; conjunctivitis; keratitis; tan/white areas of retinal pigment epithelium loss; maculopathy.

Clinical: Oligophrenia idiocy; ichthyosis (congenital); spastic disorders; epilepsy; speech defect.

Barnard NA, et al. Sjogren-Larsson syndrome: case reports of two brothers. Ophthalmic Physiol Optics 1991; 11: 180-l83.

Ghadially R, Chong LP. Ichthyoses and hyperkeratotic disorders. Dermatol Clin

Ionasesco V, et al. Amino acid abnormality in Sjogren-Larsson syndrome. Arch Neurol 1973; 28:197.

Sjogren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders: a Clinical and genetic study. Acta Psychiatr Neurol Scand 1957[Suppl 113].