title: [Macular crystalline dystrophy in Sjögren-Larsson syndrome: case report].
abstract: Presentation of a case of crystalline macular distrophy diagnosed in a female patient with Sjögren-Larsson syndrome. The disease consists of clinical findings of spastic diplegia or tetraplegia, mental retardation, and congential ichthyosis. The eyes are affected in up to 100% of cases, and crystalline maculopathy is the main finding as described in this case report. On fundus examination multiple white dots were observed at ophthalmoscopy. The optical coherence tomography has shown not only the hipereflexive intraretinal spots but also macular atrophy with macular thickness reduction. The tomographic findings were first described in our country.
authors.affiliation: Centro de Referência de Oftalmologia, Universidade Federal de Goiás, Goiânia, GO, Brasil. cruvinelisaac@hotmail.com
authors.forename: David Leonardo Cruvinel
authors.initials: DL
authors.lastname: Isaac
authors.forename: Gustavo Henrique Medeiros
authors.initials: GH
authors.lastname: Queiroz
authors.forename: Caroline Campelo
authors.initials: CC
authors.lastname: Feres
authors.forename: Marcos
authors.initials: M
authors.lastname: Avila
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology*; D016111:Sjogren-Larsson Syndrome / Q000150:complications*; D041623:Tomography, Optical Coherence