title: Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation.
abstract: METHODS
  A case is presented of a thirty year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Optical coherence tomography (OCT) revealed focal hyperreflective spots and intrafoveal microcystoid spaces. The diagnosis of Sjögren-Larsson syndrome (SLS) was made, and confirmed by genetic analysis.
  
  
  CONCLUSIONS
  SLS is caused by mutations in the ALDH3A2 gene. A previously unreported novel mutation was identified, c.681-14T>G. Macular OCT makes it possible to find even funduscopy invisible changes. Its use is important because the OCT features of SLS are specific and, therefore, it can help to diagnose this rare systemic disease.
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España. Electronic address: casamata@gmail.com.
authors.forename: C
authors.initials: C
authors.lastname: Burgueño-Montañés
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: M
authors.initials: M
authors.lastname: García-Fernández
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: M
authors.initials: M
authors.lastname: Colunga-Cueva
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
authors.forename: A
authors.initials: A
authors.lastname: García-López
mesh_terms: D000328:Adult; D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D006720:Homozygote; D006801:Humans; D008266:Macula Lutea / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D016111:Sjogren-Larsson Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D041623:Tomography, Optical Coherence; D066127:White Matter / Q000000981:diagnostic imaging
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase
keywords: Crystalline maculopathy; Maculopatía cristalina; Mutación; Mutation; Optical coherence tomography; Sjögren-Larsson syndrome; Síndrome de Sjögren-Larsson; Tomografía de coherencia óptica