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Answers: 2009 Series - October 20, 2009
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Lecture 11 of 52 NEXT»
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| A 50-year-old patient comes in for a routine exam. On fundus examination you notice the findings as shown above. |
| 1. |
Which of the following would be reasonable to include in your differential diagnosis? |
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e -- all of the above
The presence of the egg-yolk like lesions should suggest a vitelliform dystrophy. Given the age of the patient at presentation and the size of the egg-yolk lesion, adult vitelliform dystrophy would be higher on your differential compared to Best’s disease. Given the presence of drusen surrounding the egg-yolk lesion, it would be reasonable to suspect age-related macular degeneration with choroidal neovascularization. Solar retinopathy can cause a yellow spot in the fovea. Premacular hemorrhage should also be considered as a cause for these lesions, though it would be highly unlikely to have bilateral symmetric lesions secondary to a vasculopathy such as diabetes.
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| 2. |
If this were Best’s disease, to which layer of the eye would you localize this lesion? |
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b -- retinal pigmented epithelium
Best’s disease is due to a mutation in the VMD2 gene which encodes the protein bestrophin. Bestrophin is a transmembrane chloride channel located in the baslateral plasma membreane of the retinal pigment epithelium (RPE).
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| 3. |
If this were Best’s disease, which stage of disease would you classify this as and what would you espect the patient’s vision to be? |
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b -- vitelliform stage: 20/20 - 20/40
Despite the appearance of the macular lesions in Best’s disease, patients tend to maintain good vision unless they develop a choroidal neovascular membrane (~20%) or geographic atrophy as the yolk lesion breaks down.
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