Macular crystalline inclusions in Sjogren-Larsson syndrome are dynamic structures that undergo remodeling.

ABSTRACT:

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 childhood and increase with age. Once formed, the inclusions are thought to be inert and irreversible. We sought to document how the crystalline inclusions change over time.

Materials and methods

Serial retinal photographs of 4 SLS subjects (9-23 years old) were taken over a period of 1-3 years. Images were compared by visual inspection and analyzed using Imag

SUBMITTER: Al-Holou SN 

PROVIDER: S-EPMC7425776 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature