Highlights
- •We report a novel TTPA gene mutation (c.717 del C) in a patient with AVED.
- •This patient presented with retinitis pigmentosa and macular degeneration.
- •There have been no prior reports of macular degeneration in AVED.
- •Patients with AVED may develop eye complications, including macular degeneration.
Abstract
Ataxia with isolated vitamin E deficiency (AVED) is a neurodegenerative disease caused
by a mutation in the α-tocopherol transfer protein gene (TTPA). The clinical features of the disease resemble Friedreich's ataxia. However, AVED
is associated with low plasma vitamin E levels, which results in compromised antioxidant
function. Dysregulation of this lipid-soluble antioxidant vitamin plays a major role
in the neurodegeneration observed in AVED. Some AVED patients experience decreased
visual acuity. Retinitis pigmentosa is thought to be the main cause of this visual
impairment. Although antioxidant levels are important for the prevention of macular
degeneration, there have been no reports of macular degeneration in AVED. Here, we
describe a patient with AVED with progressive macular degeneration, who carried a
novel truncating mutation—c.717 del C (p.D239EfsX25)—in exon 5 of the TTPA gene. These findings suggest that this newly identified mutation results in severely
low serum vitamin E levels, which may be associated with the development of retinitis
pigmentosa and macular degeneration.
Keywords
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Article info
Publication history
Published online: July 09, 2014
Accepted:
July 1,
2014
Received in revised form:
May 29,
2014
Received:
February 2,
2014
Identification
Copyright
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
