Neuro-Ophthalmology

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.

Question: What visual field defects are present?

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

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?

References:

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

  • Instagram

©2020 by Medical Education (Ophthalmology and Vision Sciences)