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Case Reports
. 2004 Feb;88(2):191-2.
doi: 10.1136/bjo.2003.023010.

Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder

C J Lyons  1 , G Castano, A Q McCormick, D Applegarth
Affiliations
Case Reports

Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder

C J Lyons et al. Br J Ophthalmol. 2004 Feb.

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.

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Figures

Figure 1
Figure 1
Fundus photograph of patient 1. The mid-peripheral retina shows a classic leopard spot pigmentary retinopathy.
See this image and copyright information in PMC

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