Open Access Highly Accessed Research article

Molecular diagnosis of putative Stargardt disease probands by exome sequencing

Samuel P Strom1*, Yong-Qing Gao1, Ariadna Martinez1, Carolina Ortube1, Zugen Chen2, Stanley F Nelson2, Steven Nusinowitz1, Deborah B Farber1 and Michael B Gorin1

Author Affiliations

1 Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA, 90095, USA

2 Department of Human Genetics, University of California Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA, 90095, USA

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BMC Medical Genetics 2012, 13:67  doi:10.1186/1471-2350-13-67

Published: 3 August 2012

Additional files

Additional file 1:

Figure S1. Autofluorescence (A,B) and infrared (C,D) imaging of participant STGD-01. Figure S2. Fundus photos of participant STGD-02. Figure S3. Autofluorescence (AF) imaging and optical coherence tomography (OCT) images for participant STGD-03. 50° AF image of OD (A) and OS (B) shows geographic atrophy, discrete autofluorescent flecks, and peripapillary sparing in both eyes. OCT of OD (C) shows severe retinal edema. Figure S4. Autofluorescent imaging of participant STGD-04. 30° AF image of OD (A) shows “stellate” pattern dystrophy. Pattern less clear in OS (B). Figure S5. Autofluorescent imaging of participant STGD-05. 50° AF imaging of both OD (A) and OS (B) shows possible “stellate” pattern dystrophy. Figure S6. Red-free fundus images of participant STGD-06. 30° fundus images of both OD (A) and OS (B) show wide-spread geographic atrophy of the macula with mild peripapillary sparing. Figure S7. Color fundus images of participant STGD-07. 50° color fundus images from both OD (A) and OS (B) show geographic atrophy with peripapillary sparing. Figure S8. Autofluorescence and optical coherence tomography images for participant STGD-08. 50° AF shows irregular geographic atrophy without peripapillary sparing or autofluorescent flecks in both OD (A) and OS (B). OCT shows an irregularly thickened contour of the retina in both OD (C) and OS (D). Figure S9. Fundus photos of OD (A) and OS (B) for participant STGD-08. Clear “horse-shoe” pattern of atrophy is observable in both eyes.

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Additional file 2:

Table S1. Whole Exome Sequencing Details

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Additional file 3:

Figure S1. Autofluorescence (A,B) and infrared (C,D) imaging of participant STGD-01.

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Additional file 4:

Figure S2. Fundus photos of participant STGD-02.

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Additional file 5:

Figure S3. Autofluorescence (AF) imaging and optical coherence tomography (OCT) images for participant STGD-03. 50° AF image of OD (A) and OS (B) shows geographic atrophy, discrete autofluorescent flecks, and peripapillary sparing in both eyes. OCT of OD (C) shows severe retinal edema.

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Additional file 6:

Figure S4. Autofluorescent imaging of participant STGD-04. 30° AF image of OD (A) shows “stellate” pattern dystrophy. Pattern less clear in OS (B).

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Additional file 7:

Figure S5. Autofluorescent imaging of participant STGD-05. 50° AF imaging of both OD (A) and OS (B) shows possible “stellate” pattern dystrophy.

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Additional file 8:

Figure S7. Color fundus images of participant STGD-07. 50° color fundus images from both OD (A) and OS (B) show geographic atrophy with peripapillary sparing.

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Additional file 9:

Figure S6. Red-free fundus images of participant STGD-06. 30° fundus images of both OD (A) and OS (B) show wide-spread geographic atrophy of the macula with mild peripapillary sparing.

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Additional file 10:

Figure S8. Autofluorescence and optical coherence tomography images for participant STGD-08. 50° AF shows irregular geographic atrophy without peripapillary sparing or autofluorescent flecks in both OD (A) and OS (B). OCT shows an irregularly thickened contour of the retina in both OD (C) and OS (D).

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Additional file 11:

Figure S9. Fundus photos of OD (A) and OS (B) for participant STGD-08. Clear “horse-shoe” pattern of atrophy is observable in both eyes.

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