Case 11

Patient Presentation: A 15-year-old asymptomatic male presented to clinic for abnormal visual fields (shown below). His visual acuity was 20/20 OU with IOP within normal limits.

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Question: What visual field defects are present?

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Question: OCT RNFL and Ganglion Cell Inner Plexiform Layer (GCIPL) Analysis were performed and shown above.  What is the most significant finding?

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Question: Fundus photography was performed and is shown above. What is the patient's most likely diagnosis?

Question: What maternal medical condition/finding is thought to be associated with optic nerve hypoplasia?

Question: What issues are patients with optic nerve hypoplasia at risk of developing?


1. Birkebæk NH, Patel L, Wright NB, Grigg JR, Sinha S, Hall CM, Price CA, Lloyd IC, Clayton PE. Endocrine Status in Patients with Optic Nerve Hypoplasia: Relationship to Midline Central Nervous System Abnormalities and Appearance of the Hypothalamic-Pituitary Axis on Magnetic Resonance Imaging. J Clin Endocrinol Metab. 2003;99(11):5281-6.

2. Mohney BG, Young RC, Diehl N. Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia. JAMA Ophthalmol. 2013;131(7):898–902.

Learning Objectives:

1. To recognize and diagnose optic nerve hypoplasia on OCT

2. To recognize the conditions commonly associated with optic nerve hypoplasia