Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum

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Title Optic Nerve Involvement in Farber Lipogranulomatosis: Expanding the Phenotypic Spectrum
Creator Abdullah S. Alamri, Daniah A. Alshowaeir, Ali A. AlFaiz, Fatimah H. Al Mousawi, Adel A. Mahmoud, Aqeela H. Alhashim
Affiliation 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
Abstract Farber lipogranulomatosis (Farber disease [FD], MIM 228000) is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of acid ceramidase (AC) and is linked to ASAH1 gene mutations. ASAH1 mutations can lead to severe reduction in AC activity that causes accumulation of ceramides in various body tissues including the retina. The onset of clinical manifestations usually occurs during infancy, and the severity depends on residual ceramidase activity. Classic clinical features of FD include painful joint swelling, progressive dysphonia, and subcutaneous nodules. We report 2 unrelated patients presenting with classic FD phenotype who shared the same homozygous pathogenic mutation in the ASAH1 gene and optic neuropathy, thereby expanding the FD phenotypic spectrum.
OCR Text Show
Publisher Lippincott, Williams & Wilkins
Date 2019-09
Type Text
Source Journal of Neuro-Ophthalmology, September 2019, Volume 39, Issue 3
Language eng
Rights Management © North American Neuro-Ophthalmology Society
Publication Type Journal Article
ARK ark:/87278/s6tf5mv0
Setname ehsl_novel_jno
Date Created 2020-09-25
Date Modified 2021-05-06
ID 1595906
Reference URL https://collections.lib.utah.edu/ark:/87278/s6tf5mv0
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