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  Vol. 124 No. 5, May 2006 TABLE OF CONTENTS
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Case of Stargardt Disease Caused by Uniparental Isodisomy

Arch Ophthalmol. 2006;124:744-745.

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

Stargardt disease is the most common form of juvenile macular degeneration, with an incidence of 1 in 10 000 persons. Clinically, it is characterized by pisciform flecks at the level of the retinal pigment epithelium and a bull’s-eye maculopathy.1 A variant of Stargardt disease, fundus flavimaculatus, demonstrates a more peripheral distribution of flecks.2 In 1997, mutations in the ABCA4 gene on chromosome 1 were associated with both Stargardt disease and fundus flavimaculatus.3 Stargardt disease is an autosomal recessive condition. Consequently, patients are expected to inherit 1 copy of a mutant ABCA4 gene from each parent. However, we recently identified a patient affected with Stargardt disease who inherited 2 mutant alleles of the ABCA4 gene from her father through a mechanism known as uniparental disomy.4-5

A female patient aged 15 years was diagnosed with Stargardt disease with visual acuities of 20/200 OD and 20/150 OS and characteristic retinal findings (Figure 1. . . [Full Text of this Article]


AUTHOR INFORMATION
John H. Fingert, MD, PhD; David A. Eliason, BA; Nicole C. Phillips, BA; Andrew J. Lotery, MD, FRCOphth; Val C. Sheffield, MD, PhD; Edwin M. Stone, MD, PhD







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