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Paediatric Ophthalmology

Case 6


Patient Presentation: A 12-year-old female was referred by her optometrist to a paediatric retina clinic for painless decreased vision over the last 2 months. The patient denied any past medical history or family history of eye diseases; the parents were first cousins.  She denied any trauma, red eye or visual field deficit. Visual acuity was 20/30 OD and 20/40 OS. IOP was 13mmHg OD and 14mmHg OS; there was no RAPD. Fundus photographs and OCT macula images were taken and are shown below:


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

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

Question 3: What is the most common gene implicated in CACD?

One-year later, the patient presented with further decreased vision in the right eye. Visual acuity was 20/60 OD and 20/40 OS. Fundus photos and OCT macula images were taken and are shown below:


Question 4: Describe the OCT images above

To characterize the changes seen on fundus photography and OCT imaging, an OCT angiography was taken and confirmed a new choroidal neovascular membrane OD:


Question 5: What is the best treatment for this patient's new CNVM?

Learning Objectives:

  1. Understand the OCT findings in central areolar choroidal dystrophy.

  2. Appreciate the possible complications of CACD

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