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J. C. Hwang, J. Zernant, R. Allikmets, G. Barile, S. Chang, R. T. Smith; Peripapillary Atrophy in Stargardt Disease. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2156.
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© ARVO (1962-2015); The Authors (2016-present)
To demonstrate that Stargardt disease (STGD) can present with peripapillary atrophy.
Patients with ABCA4 mutations P1380L and/or IVS40+5G>A were identified retrospectively from an STGD database from June 1999 to November 2005 at Columbia University’s Harkness Eye Institute. Four eyes of four patients were identified and the medical records were reviewed. Genotyping was performed by the ABCR400 microarray followed by direct sequencing to confirm identified variants.
Case 1 demonstrated peripapillary and central atrophy with heterozygous ABCA4 mutations P1380L and IVS40+5G>A. Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy with homozygous ABCA4 mutations P1380L and P1380L. The remaining cases shared one common STGD mutation with Case 1 and 2 (P1380L or IVS40+5G>A) and demonstrated classic STGD findings of central atrophy and varying presence of peripheral flecks without peripapillary lesions.
STGD can present with peripapillary atrophy. Peripapillary atrophy may arise from specific combinations of STGD ABCA4 mutations rather than single mutations.
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