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