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  • Title: Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings.
    Author: Eustis HS, Curry T, Superneau DW.
    Journal: J Pediatr Ophthalmol Strabismus; 1995; 32(2):125-7. PubMed ID: 7629669.
    Abstract:
    Peroxisomal bifunctional enzyme complex deficiency is a recently recognized abnormality of fatty acid metabolism. We herein present the association of a flecked retina with peroxisomal bifunctional enzyme deficiency, a clinical association not previously reported. We suggest the finding of a flecked retina in an infant presenting with hypotonia, seizures, and failure to thrive is highly suggestive of this diagnosis.
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