Ocular pathologic findings in neonatal adrenoleukodystrophy.

Ocular pathology in a case of neonatal adrenoleukodystrophy (ALD) showed marked degeneration of photoreceptor cells throughout the retina including the macula. Macroscopically visible white opacities in the cortical vitreous of the posterior fundus were shown immunohistochemically and ultrastructurally to be macrophages containing bileaflet inclusions, a finding previously unreported. Additional findings included extensive loss of the retinal nerve fiber and ganglion cell layers, optic nerve degeneration, and bileaflet inclusions in retinal pigment epithelial cells and macrophages of the retina and optic nerve. Focal retinal pigmentary changes were observed that histologically were different from retinitis pigmentosa.