Article Text
Clinical science
Scientific reports
Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder
Abstract
Background: Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic.
Methods: Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these.
Conclusion: Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.
- adrenoleucodystrophy
- infancy
- leopard spot
- peroxisome