RT Journal Article SR Electronic T1 Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder JF British Journal of Ophthalmology JO Br J Ophthalmol FD BMJ Publishing Group Ltd. SP 191 OP 192 DO 10.1136/bjo.2003.023010 VO 88 IS 2 A1 C J Lyons A1 G Castano A1 A Q McCormick A1 D Applegarth YR 2004 UL http://bjo.bmj.com/content/88/2/191.abstract AB 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.