End-stage crystalline maculopathy with retinal atrophy in Sjogren-Larsson syndrome: a case report and review of the literature.

ABSTRACT: Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). Universal signs of the condition are congenital ichthyosis, spastic paresis of the lower and upper limbs, and reduced intellectual ability. In addition to this clinical triad, patients with SLS experience dry eyes and decreased visual acuity caused by a progressive retinal degeneration. Examination of the retina in patients with SLS often reveals glistening yellow crystal-like deposits surrounding the fovea. This crystalline retinopathy often develops in childhood and is considered pathognomonic for the disease. The metabolic disorder typically shortens lifespan to half t

SUBMITTER: Lambert LH 

PROVIDER: S-EPMC10032463 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature