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Clinical Features & Retinal Function In Patients With Adult Refsum Syndrome

  • Bart P Leroy
  • Chris R Hogg
  • Pamela R Rath
  • Vicky Mcbain
  • Philippe Kestelyn
  • Alan C Bird
  • Graham E Holder
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 544)

Abstract

Purpose: To characterise the clinical findings, and retinal function in patients with Adult Refsum Syndrome (ARS) using clinical examination and electroretinography, and to evaluate possible effects of treatment. ARS is an autosomal recessive peroxisomal multisystem disorder with accumulation of phytanic acid (PhyAc) (Jansen et al, 1997). Mutations have been identified in the gene encoding human phytanoyl-CoA a-hydroxylase (Jansen et al, 1997, Mihalik et al, 1997) and recently in PEX7 (van den Brink et al, 2003). The classical clinical features of the condition are retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia and high protein levels in CSF in the absence of hypercellularity (Wanders et al, 2001). The disease is treatable by a PhyAc restriction diet, either alone, or in combination with plasmapheresis (Wanders et al, 2001). Only a limited amount of patients have been studied with visual electrophysiology to date (Berson, 1987 and Claridge et al, 1992).

Keywords

Phytanic Acid Retinitis Pigmentosa Cerebellar Ataxia Retinal Degeneration Retinal Function 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2004

Authors and Affiliations

  • Bart P Leroy
    • 1
    • 2
  • Chris R Hogg
    • 3
  • Pamela R Rath
    • 4
  • Vicky Mcbain
    • 3
  • Philippe Kestelyn
    • 2
  • Alan C Bird
    • 4
  • Graham E Holder
    • 3
  1. 1.Dept of OphthalmologyGhentBelgium
  2. 2.Ctr for Med GeneticsGhent University HospitalGhentBelgium
  3. 3.Dept of ElectrophysiologyGhentBelgium
  4. 4.Dept of Clinical OphthalmologyMoorfields Eye HospitalUK

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