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ABSTRACT Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to… Click to show full abstract
ABSTRACT Peroxisomal biogenesis disorders are caused by disruption of long chain fatty acid metabolism due to mutations in PEX genes. Individuals with these disorders often have vision loss due to optic atrophy and pigmentary retinopathy. We report an unusual retinal manifestation of peroxisomal biogenesis disorder.
Keywords:
biogenesis disorders;
findings peroxisomal;
peroxisomal biogenesis;
retinal findings;
novel retinal;
biogenesis
Journal Title: Ophthalmic Genetics
Year Published: 2018
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Journal Title: Ophthalmic Genetics
Year Published: 2018
Link to full text (if available)
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recommendations!