Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum

J Neuroophthalmol. 2019 Sep;39(3):391-393. doi: 10.1097/WNO.0000000000000795.

Authors

Abdullah S Alamri¹, Daniah A Alshowaeir, Ali A AlFaiz, Fatimah H Al Mousawi, Adel A Mahmoud, Aqeela H Alhashim

Affiliation

¹ Pediatric Neurology Department (ASA, AAM, AHA), National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Pediatrics (ASA), College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; Neuro-ophthalmology Unit (DAA), Ophthalmology Department, King Saud University, Riyadh, Saudi Arabia; and Research Center (AAA, FHAM), King Fahad Medical City, Riyadh, Saudi Arabia.

PMID: 31022067
DOI: 10.1097/WNO.0000000000000795

No abstract available

Publication types

Case Reports

MeSH terms

Acid Ceramidase / genetics
Brain / diagnostic imaging*
Brain / physiopathology
Child, Preschool
Farber Lipogranulomatosis / diagnosis*
Farber Lipogranulomatosis / diagnostic imaging
Farber Lipogranulomatosis / genetics
Farber Lipogranulomatosis / physiopathology
Female
Humans
Magnetic Resonance Imaging
Male
Mutation
Optic Nerve / diagnostic imaging*
Optic Nerve / physiopathology
Phenotype

Substances

ASAH1 protein, human
Acid Ceramidase