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

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 lo...

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Detalles Bibliográficos
Autores principales: Lambert, Lester H., Shaikh, Noreen, Marx, Jeffrey L., Ramsey, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032463/
https://www.ncbi.nlm.nih.gov/pubmed/37180414
http://dx.doi.org/10.1177/26330040221122496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032463/
https://www.ncbi.nlm.nih.gov/pubmed/37180414
http://dx.doi.org/10.1177/26330040221122496

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