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Case of Stargardt Disease Caused by Uniparental Isodisomy
Arch Ophthalmol. 2006;124:744-745.
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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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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
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