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  Vol. 125 No. 2, February 2007 TABLE OF CONTENTS
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  Clinicopathologic Reports, Case Reports, and Small Case Series
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Catastrophic Visual Loss in a Patient With Friedreich Ataxia

Neroli Porter, MBBS, FRANZCO; Susan M. Downes, MD, FRCOphth; Carl Fratter, MPhil, DipRCPath; Philip Anslow, MA, MBBChir, FRCR; Andrea H. Németh, MBBS, MRCP, DPhil (Oxon)

Arch Ophthalmol. 2007;125(2):273-274.

Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder usually characterized by progressive early-onset ataxia. The most common ophthalmic manifestation of FRDA is optic neuropathy, which is usually late in onset, is slowly progressive, and rarely causes severe visual loss.1 The genetic basis of FRDA in most patients is the homozygous expansion of a GAA trinucleotide repeat within the first intron of the FRDA gene, which encodes the mitochondrial protein frataxin. Mutations in frataxin cause progressive iron accumulation in mitochondria. Four percent of patients are compound heterozygotes for the GAA expansion on one allele and a point mutation on the other.2 We describe a patient with FRDA who was a compound heterozygote for the GAA expansion and a Gly130Val missense mutation, developed rapid-onset catastrophic visual . . . [Full Text of this Article]

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