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Case 14

Patient Presentation: A 14-year-old asymptomatic female presented to clinic for routine eye exam. Visual acuity was 20/25 -1 OD and 20/25 -2 OS. Examination demonstrated iris transillumination defects and nystagmus. Fundus examination demonstrated blond fundi with absent foveal light reflex. OCT Macula OU were performed and shown below.

Retina 14-1.png

Question: What is the main abnormality seen on the patient’s OCT images?

Question: What is this patient’s most likely diagnosis?

Question: How would you grade the foveal hypoplasia in this patient?

Question: What findings are NOT commonly associated with foveal hypoplasia?

Question: How should this patient be managed?



1. Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, Chan WM, Thomas S, Gottlob I. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011 Aug;118(8):1653-60.

2. Stern JH, Tian Y, Funderburgh J, Pellegrini G, Zhang K, Goldberg JL, Ali RR, Young M, Xie Y, Temple S. Regenerating Eye Tissues to Preserve and Restore Vision. Cell Stem Cell. 2018 Jun 1;22(6):834-849.

Learning Objectives:

1. To recognize and diagnose foveal hypoplasia on OCT

2. To recognize the conditions commonly associated with foveal hypoplasia

3. To understand the management plan for patients with foveal hypoplasia

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