A 39-Year-Old Man's Contact Lens Exam Reveals Abnormalities

Rod Foroozan, MD

Disclosures

May 20, 2019

Case Diagnosis

Funduscopy showed marked optic disc hypoplasia in each eye with no optic disc cup. The hypoplastic optic discs were associated with decreased RNFL measures on OCT.

Although the visual field defects were primarily temporal on automated perimetry, there was no mass lesion on the MRI of the brain to indicate chiasmal compression.

The hallmark of glaucomatous optic neuropathy is optic disc cupping that conforms to the areas of visual field loss. There was no central cup in either eye and therefore no optic disc cupping to suggest glaucoma.

This patient was asymptomatic and had no evidence of central vision loss, which is a hallmark of Leber hereditary optic neuropathy. Although funduscopy may be normal in the short term, over time, the expectation is that there would be evidence of progressive nerve fiber loss with the development of optic disc pallor.

Clinical Course

Automated perimetry and RNFL measures on OCT were repeated 3 months later and found to be unchanged. Because endocrine abnormalities may be associated with optic nerve hypoplasia, the patient underwent an endocrine evaluation, but no hormonal abnormalities were detected.

Discussion

Optic disc hypoplasia is one of the most frequent causes of congenital visual impairment. Patients often can be asymptomatic, with abnormalities detected only during an eye examination, as in this case.

The vision loss is variable and more commonly bilateral, and although there tends to be a correlation of visual dysfunction with the degree of hypoplasia,[1,2] it may be difficult to predict the level of visual impairment solely by examining the optic disc. Ancillary studies that help demonstrate decreased RNFL and ganglion cell measures can be used as adjuncts to funduscopy in confirming the diagnosis.

Optic disc hypoplasia may be associated with structural abnormalities of the central nervous system.[3] MRI in bilateral optic nerve hypoplasia may show diffuse thinning of the optic nerves, optic chiasm in bilateral optic nerve hypoplasia, and focal thinning of the optic nerve in unilateral optic nerve hypoplasia. Other abnormalities may include anomalies of midline brain structures.

Growth hormone deficiency is the most common endocrine abnormality associated with optic nerve hypoplasia. Although abnormal MRI findings may not be predictive of endocrinopathies, a normal MRI of the brain does not exclude the possibility of endocrine abnormalities either.[4]

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