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Paediatric Ophthalmology

Case 4


Patient Presentation: A 14-year-old male was referred to a paediatric ophthalmology clinic for decreased vision in both eyes over the past 2 years. The patient denied previous red eye or visual field deficit. There was no past medical, ocular or family history of eye disease. Best corrected distance visual acuity was 20/100 OD and 20/150 OS. IOP was 12 OD and 13 OS; there was no RAPD. Fundus photos and OCT macula images were taken and are shown below:


Question 1: What is the main finding in the OCT macula images above?

Fundus autofluorescence images were also conducted and are shown below:


Question 2: Based on the fundus photos, OCT, and fundus autofluorescence images, what is the most likely diagnosis?

Question 3: What gene is implicated in typical Stargardt’s disease?

Learning Objectives:

  1. Understand the presenting signs of Stargardt’s disease

  2. Learn the pathophysiology and genetic cause of Stargardt’s disease

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