title: Optical coherence tomography aspect of crystalline macular dystrophy in Sjögren-Larsson syndrome.
abstract: Sjögren-Larsson syndrome is an autosomal-recessive disease caused by a deficiency of the microsomal fatty aldehyde dehydrogenase enzyme. The syndrome is defined by congenital ichthyosis, spasticity, mental retardation and ocular features. We report the case of a 10-year-old boy presenting with bilateral visual impairment and photophobia. Fundus examination showed a mark of yellow-white refractile, perifoveal crystals in each eye. Optical coherence tomography (OCT) detected focal reflective structures corresponding to clinically visible intraretinal crystals and macular macrocystoids space. This case is presented to highlight the ocular findings and to evaluate the contribution of OCT in the study of the fovea anatomic changes.
authors.affiliation: Department of Ophthalmology, University Hospital Hassan II Fez Morocco, Fès Principal, Morocco. salimaophta@hotmail.com
authors.forename: Salima
authors.initials: S
authors.lastname: Bhallil
authors.forename: Fouad
authors.initials: F
authors.lastname: Chraibi
authors.forename: Idriss Benatiya
authors.initials: IB
authors.lastname: Andalloussi
authors.forename: Hicham
authors.initials: H
authors.lastname: Tahri
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008268:Macular Degeneration / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology; D041623:Tomography, Optical Coherence / Q000379:methods*
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase