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Case Reports
. 2009 Feb;29(2):181-6.
doi: 10.1097/IAE.0b013e31818a2c01.

Peripapillary atrophy in Stargardt disease

John C Hwang  1 , Jana Zernant, Rando Allikmets, Gaetano R Barile, Stanley Chang, R Theodore Smith
Affiliations
Case Reports

Peripapillary atrophy in Stargardt disease

John C Hwang et al. Retina. 2009 Feb.

Abstract

Objective: To demonstrate that Stargardt disease (STGD) can present with peripapillary atrophy.

Methods: Retrospective case series. The medical records of 150 consecutive patients (300 eyes) were reviewed retrospectively from a STGD database from January 1999 to May 2007 at Columbia University's Harkness Eye Institute. STGD patients demonstrating peripapillary atrophy were identified.

Results: Three of 150 cases of STGD (2.0%) demonstrated peripapillary atrophy. Case 1 revealed 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. Case 3 revealed bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions with ABCA4 mutations P1380L and R2030Q. Overall, ABCA4 mutation P1380L was noted in 13 cases (8.7%), IVS40 + 5G>A in 6 cases (4.0%), and R2030Q in 1 case (0.7%). The remaining cases shared one common STGD mutation with Case 1, 2, and 3 (P1380L or IVS40 + 5G>A) and demonstrated classic STGD findings of central atrophy and varying presence of peripheral flecks without peripapillary lesions.

Conclusion: STGD can present with peripapillary atrophy. This relatively uncommon phenotype may arise from specific combinations of STGD ABCA4 mutations rather than single mutations.

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Figures

Fig. 1
Fig. 1
Case 1. STGD with peripapillary atrophy and mutations P1380L and IVS40 + 5G>A. A, Autofluorescence OD. B, Color Photo OD. C, Autofluorescence OS. D, Color Photo OS. All show marked peripapillary and macular atrophy with a sharply demarcated zone of sparing between them. These characteristics caused initial diagnostic confusion with choroidal sclerosis.
Fig. 2
Fig. 2
Case 2. STGD mutations P1380L and P1380L. A, Autofluorescence OD. B, Autofluorescence OS show multifocal hypoautofluorescent (atrophic) lesions involving the central macula OU and peripheral hyperautofluorescent flecks OU. The peripapillary regions have atrophic flecks OU but there is not confluent peripapillary atrophy.
Fig. 3
Fig. 3
A and B, Case 3. STGD mutations P1380L and R2030Q. Autofluorescence OD and OS demonstrate atrophic fleck lesions involving the macula and periphery with an area of confluent atrophy superotemporal to the fovea OD. Hyperautofluorescent flecks are also present in the periphery OU. The peripapillary regions reveal atrophic flecks OU without areas of confluent atrophy.
Fig. 4
Fig. 4
Case 4. STGD mutation IVS40 + 5G>A. A, Color Photo OU. B, Red-Free Photo OU reveal central atrophy and classic peripheral pisciform flecks sparing the peripapillary regions OU. C, Autofluorescence OD. D, Autofluorescence OS show that the innermost flecks are hypoautofluorescent, consistent with atrophy, whereas the outermost flecks are hyperautofluorescent, demonstrating excess lipofuscin. There is moderate peripapillary hypoautofluorescence that is not as dark as this patient’s central atrophy or the peripapillary atrophy of Case 1. This finding may thus be due to the patient’s myopia.
Fig. 5
Fig. 5
Case 5. STGD mutations P1380L and S1696N. A, Autofluorescence OD. B, Autofluorescence OS show multifocal small atrophic lesions confined to the fovea OU. The peripapillary regions are normal.
See this image and copyright information in PMC

References

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