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Case 27

Contributor: Dr. Sultan Aldrees, MD

Patient Presentation: A 41-year-old male presents to clinic with a longstanding history of decreased vision in both eyes. On examination, visual acuity is 20/200 in the right eye and 20/250 in the left eye. There was no RAPD. Intraocular pressures were normal. Slit lamp exam was unremarkable. Fundus exam is shown through the Optos® photos. FAF and OCT were also ordered, shown below:

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Question: Which of the following features are seen in the above OCT scan?

Question: In the FAF, there are areas of hyper and hypo-autofluorescence. What is the significance of these findings?

Question: Given the patient’s young age and longstanding history of poor vision, you perform genetic testing that is positive for a mutation in ABCA4 gene. Given this, what is the likely diagnosis?

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Question: What is the red arrow pointing to in the OCT above?

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Question: What layer of the retina is the yellow arrow pointing to?

Question: SD can lead to bull’s eye atrophic maculopathy. Can you list four other differential diagnosis of bull’s eye maculopathy?

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Question: A fluorescein angiogram (FA) was obtained for this patient, shown below. What is the classic FA sign seen in Stargardt disease?

Learning Objectives:

1. To be able to recognize the OCT, FAF and FA features of Stargardt disease.  Understanding the pathophysiology of the disease will help in remembering these features.

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