MedGen

Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]

Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. [from MONDO]

Crystalline deposits in the macula. [from HPO]