[Optical coherence tomography in Sjögren-Larsson Syndrome diagnosis].

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.