Optical coherence tomography aspect of crystalline macular dystrophy in Sjögren-Larsson syndrome

被引：2

作者：

Salima Bhallil

Fouad Chraibi

Idriss Benatiya Andalloussi

Hicham Tahri

机构：

[1] Department of Ophthalmology, University Hospital Hassan II Fez Morocco, CP30000 Fès Principal

来源：

International Ophthalmology | 2012年 / 32卷 / 5期

关键词：

Crystalline macular dystrophy; Optical coherence tomography; Sjögren-Larsson syndrome;

D O I：

10.1007/s10792-012-9590-9

中图分类号：

学科分类号：

摘要：

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. © 2012 Springer Science+Business Media B.V.

引用

页码：495 / 498

页数：3

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