Issue 10/2024
Ivanova, M., Vankova, M., Vassileva, P.
Specialized Eye Hospital “Acad. Pashev” – Sofia
Farber‘s disease is an extremely rare inherited metabolic disorder characterized by inflammation and neurodegeneration. It is caused by a deficiency of the enzyme acid ceramidase. The deficiency of this enzyme leads to excessive accumulation of ceramides in the tissues – in the joints, nervous tissue, liver, kidneys, and elsewhere. The disease manifests in early childhood, but later onset is also possible, with early death often occurring in children with more severe neurological involvement. In patients with milder presentations, the presence of subcutaneous nodules, contractures, inflammatory granulomas in the joint area, and a hoarse voice due to granuloma formation in the respiratory tract are observed. As the disease progresses, interstitial pneumonitis develops, leading to respiratory insufficiency, which is the most common cause of death in these patients. Ocular involvement includes a whitish appearance of the retina with cherry-red spot, nystagmus, and conjunctival nodules. Less than 200 cases of patients with Farber’s disease have been described in the medical literature. Considering also the early death in its classic form, the impact of acid ceramidase deficiency on the visual system has not been fully studied to this day.
Key words: ceramides, acid ceramidase, Farber‘s disease, lysosomal storage diseases (LSDs), mutations in ASAH1 gene, lipogranulomas
Аddress for correspondation:
Ivanova, M.
Specialized Eye Hospital for Active Treatment
„Acad. Pashev“
51, Em. Vaskidovich, Str.
1517, Sofia
e-mail: mihaela.bg.321@gmail.com