ICNC Abstracts, ICNC 2018

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Optic Atrophy and Retinal Pigmentary Changes: Expanding The Phenotypic Spectrum of Farber Lipogranulomatosis
Abdullah Saeed Alamri, Ali A AlFaiz, Daniah Alshowaeir, Fatimah Al Mousawi, Adel A Mahmoud, Aqeela Al-Hashim

Last modified: 2018-09-09

Abstract


Farber Lipogranulomatosis (FD, MIM228000) is very rare autosomal recessive lysosomal disorder caused by a deficiency of acid ceramidase which is linked to mutation within chromosome 8p22 (ASAH1 gene). Affected subjects present usually during infancy or early childhood. The triad of subcutaneous nodules, painful progressively deformed joints and hoarseness of voice is the classic phenotype due to the accumulation of ceramide in various body tissues. Ocular involvement with retinal pigmentary changes and optic atrophy has never been described in FD. Here we report the first two unrelated Saudi patients with a homozygous pathogenic mutation in ASAH1 gene at c.338T>G (p.Val97Gly) and ocular involvement. Those cases are instructive because it expands the spectrum of Farber disease phenotype with the addition of ocular involvement and they demonstrate the variability of Farber disease phenotype and severity despite sharing the same genetic variation.

 


Keywords


Farber; Lipogranulomatosis; ASAH1; Lysosomes; Ceramidase

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