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Related Experiment Videos

Ocular pathologic findings in neonatal adrenoleukodystrophy.

B J Glasgow1, H H Brown, J B Hannah

  • 1Department of Pathology, UCLA Medical Center 90024.

Ophthalmology
|August 1, 1987
PubMed
Summary

Neonatal adrenoleukodystrophy (ALD) causes severe retinal degeneration. Unreported bileaflet inclusions in vitreous macrophages were found, distinct from retinitis pigmentosa.

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Area of Science:

  • Ophthalmology
  • Neuropathology
  • Genetics

Background:

  • Neonatal adrenoleukodystrophy (ALD) is a peroxisomal disorder.
  • ALD affects the adrenal glands, testes, and central nervous system.
  • Ocular manifestations of ALD are not well-characterized.

Observation:

  • A case of neonatal ALD presented with significant ocular pathology.
  • Degeneration of photoreceptor cells was observed throughout the retina.
  • White opacities were noted in the posterior fundus cortical vitreous.

Findings:

  • Immunohistochemistry and ultrastructural analysis revealed macrophages with bileaflet inclusions in the vitreous.
  • Extensive loss of retinal nerve fiber and ganglion cell layers was present.
  • Bileaflet inclusions were also found in retinal pigment epithelial cells and optic nerve macrophages.

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  • Focal retinal pigmentary changes, histologically distinct from retinitis pigmentosa, were observed.

    • Implications:

    • This study reports novel ocular findings in neonatal ALD, including unique bileaflet inclusions.
    • The observed pathology suggests a potential role for ALD in retinal degeneration.
    • Further research is needed to understand the pathogenesis and clinical significance of these ocular findings.