Medical Subject Headings

Amblyopia; Septum Pellucidum; Pallor; Absence of Septum Pellucidum; Septo-Optic Dysplasia; Optic Nerve Hypoplasia, Bilateral


Background: Septo-optic dysplasia (SOD) is a congenital deformity of the brain which can result in neurologic, systemic, and physical malformation.Due to the proximity of these deformities to the optic chiasm and optic nerves, ocular manifestations are common.

Case Report: A 28-year-old male with a long-standing history of reduced vision presented for a routine eye examination. Upon examination he was found to have an afferent pupillary defect, bilateral optic nerve pallor with corresponding nerve fiber layer thinning by optical coherence tomography. Humphrey visual field testing revealed a bi-temporal visual field defect. Neurological imaging was obtained with a subsequent diagnosis of Septo-optic dysplasia (SOD).

Conclusion: Our patient had bilateral optic nerve hypoplasia and an absent septum pellucidum without endocrine abnormalities. This case reiterates the importance of accurate diagnosis of amblyopia only in the absence of ocular and neurological disease. This review also highlights the importance of imaging in instances of unexplained optic atrophy.

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Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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