1. Spectral Domain Optical Coherence Tomography (SD-OCT) Findings in Refsumʼs Disease

    Spectral Domain Optical Coherence Tomography (SD-OCT) Findings in Refsumʼs Disease

    Refsumʼs disease (OMIM 266500) is a very rare (about 60 cases have been reported worldwide) autosomal recessive inherited peroxisomal error of lipid metabolism with impaired alpha-oxidation of branched fatty acids that leads to an accumulation of phytanic acid in tissues and plasma [ 1 ]. Various mutations of genes like PEX7 (encodes PTS2 receptor) or PHYH (encodes phytanoyl-CoA hydroxylase) are associated with Refsumʼs disease. Most cases are detected by the clinical manifestations in the early childhood. Typical clinical signs are retinitis pigmentosa, cerebellar ataxia and peripheral neuropathy. Other symptoms are acustic nerve deafness, cardiomyopathy, cutaneous ichthyosis, and epiphysial dysplasia [ 2 ], [ 3 ]. Patients ...

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