• By: Arlene V. Drack, MD; Elias I. Traboulsi, MD
    A Compendium of Inherited Disorders and the Eye, Oxford University Press
    Genetics

    OMIM Numbers

    • 202370

    Inheritance

    • Autosomal recessive

    Gene/Gene Map

    • Caused by mutations in PTS1 receptor gene (PXR1, OMIM 600414), peroxin-1 gene (PEX1, OMIM 602136), peroxin-10 gene (PEX10, OMIM 602859), and peroxin-13 gene (PEX13, OMIM 601789)

    Epidemiology

    • Very rare

    Clinical Findings

    • Onset is in the first few days of life, with severe psychomotor retardation, opisthotonus, and seizures.
    • There is extensive demyelination of the brain.
    • Patients have adrenal insufficiency and later become deaf and blind.
    • Death occurs between the ages of 1 and 9 years.
    • There are increased serum levels of very long chain fatty acids (VLCFAs) and decreased plasmalogen levels. 

    Ocular Findings

    • Abnormal retinal pigmentation, with "leopard spots" and optic atrophy (Figure 1).
    • The electroretinogram is nonrecordable.
    • Other ocular findings include neonatal polar cataracts and strabismus. 

    Figure 1.  Leopard-spot retinopathy in an infant with neonatal adrenoleukodystrophy (courtesy of Sprague Eustis, MD).

    Therapeutic Aspects

    • Patients are treated with Docohexanoic acid (DHA) with stabilization of retinopathy and some improvement in general systemic clinical abnormalities. 

     

    References

    1. Al-Hazzaa SA, Ozand PT: Peroxisomal bifunctional enzyme deficiency with associated retinal findings. Ophthalmic Genet. 1997; 18:93-99.
    2. Cohen SM, Green WR, de la Cruz ZC, et al: Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol. 1983; 95:82-96.
    3. Folz SJ, Trobe JD: The peroxisome and the eye. Surv Ophthalmol. 1991; 35:353-368.
    4. Maksoud SAA, El-Bassyouni HT, Afifi HH, Khalifa AG. The role of DHA in amelioration of symptoms of peroxisome biogenesis disorders. Res J Medicine Med Sci. 2007; 2:5-13.

     Resources

    Traboulsi EI.  Compendium of Inherited Disorders and the Eye. New York: Oxford University Press; 2005. Adapted with permission.