Bulletin de la Societe belge d'ophtalmologie · 2012
[Optical coherence tomography in Sjögren-Larsson Syndrome diagnosis].
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Loukil I, Naija O, Hachicha F
Аннотация
PURPOSE: To study the clinical and the optical coherence tomography (OCT) features of crystalline_macular dystrophy in a 14-year-old man with Sjögren-Larsson syndrome (SLS).
CASE REPORT: A 14-year-old man was hospitalized because of a severe hyperkeratosis, epilepsy, spastic paraplegia and mental retardation. The diagnosis of SLS was considered. A bilateral crystalline maculopathy was detected by fundus ophthalmoscopy. OCT showed bilateral focal perifoveal hyperreflectivities and microcystoid spaces.
DISCUSSION-CONCLUSION: OCT features of the crystalline maculopathy could point at SLS in undiagnosed patients. It is a low cost and non invasive procedure that could be of value in elucidating the pathophysiological mechanisms of SLS.
CASE REPORT: A 14-year-old man was hospitalized because of a severe hyperkeratosis, epilepsy, spastic paraplegia and mental retardation. The diagnosis of SLS was considered. A bilateral crystalline maculopathy was detected by fundus ophthalmoscopy. OCT showed bilateral focal perifoveal hyperreflectivities and microcystoid spaces.
DISCUSSION-CONCLUSION: OCT features of the crystalline maculopathy could point at SLS in undiagnosed patients. It is a low cost and non invasive procedure that could be of value in elucidating the pathophysiological mechanisms of SLS.