Article
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.
Ophthalmic genetics - 1 Aug 2020
Al-Holou Shaza N, Siefker Edward, Fouzdar-Jain Samiksha, Suh Donny W, Rizzo William B
Abstract excerpt
BACKGROUND: Sjögren-Larsson syndrome (SLS) is a rare genetic neurocutaneous disease caused by mutations in ALDH3A2 that results in deficiency of fatty aldehyde dehydrogenase and accumulation of fatty aldehydes and alcohols. The disease is associated with ichthyosis, spasticity, and intellectual disability. Patients exhibit a characteristic retinopathy with macular crystalline inclusions that first appear in early...
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