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Paediatric Ophthalmology

Case 1


Patient Presentation: A 11-year-old male with a history of neurofibromatosis type 2 presented to a pediatric retina clinic for assessment of an atypical lesion in his posterior pole OD. The patient’s mother noted a painless decrease in vision over the last 2 years, but denied trauma, flashes, floaters or a visual field deficit. The patient’s NF2 was stable; his previous MRI brain and orbits was unremarkable. Best corrected distance visual acuity was 20/80 OD and 20/20 OS. IOP was within normal limits, and there was no RAPD.

Fundus photographs were taken and are shown below:


An OCT macula of the right eye was also conducted and is shown below:


Question 1: What findings are seen in the OCT macula above?

Question 2: Based on the history of NF2, fundus findings, and OCT macula imaging, what is the most likely diagnosis?


Question 3: Looking back at the OCT macula, what sign is demonstrated by this combined hamartoma of the retina and RPE?

Question 4: What is the prognosis for CHRRPE lesions?

Learning Objectives:

  1. To understand the OCT findings, including detection of the omega sign, for combined hamartoma of the retina and RPE.

  2. To understand the prognosis and follow-up process for CHRRPE lesions.

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