Optical coherence tomography aspect of crystalline macular dystrophy in Sjögren-Larsson syndrome
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Updated: May 19, 2026

Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats
Published on: January 10, 2019
Salima Bhallil1, Fouad Chraibi, Idriss Benatiya Andalloussi
1Department of Ophthalmology, University Hospital Hassan II Fez Morocco, Fès Principal, Morocco. salimaophta@hotmail.com
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.
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