TY - JOUR T1 - Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 191 LP - 192 DO - 10.1136/bjo.2003.023010 VL - 88 IS - 2 AU - C J Lyons AU - G Castano AU - A Q McCormick AU - D Applegarth Y1 - 2004/02/01 UR - http://bjo.bmj.com/content/88/2/191.abstract N2 - 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. ER -