Bilateral Straatsma syndrome with nystagmus

Retin Cases Brief Rep. 2015 Summer;9(3):198-200. doi: 10.1097/ICB.0000000000000137.

Abstract

Purpose: This case report presents a rare case of bilateral Straatsma syndrome with nystagmus and documents additional findings related to spectral domain optical coherence tomography and ocular fundus images.

Methods: Case report with fundus photography, fluorescein angiography, indocyanine green angiography, and spectral domain optical coherence tomography correlations.

Results: A 22-year-old man presented with extensive bilateral myelination of the retinal nerve fiber layer that encompassed both posterior poles. The patient had concomitant ocular findings of high myopia, strabismus, amblyopia, and congenital nystagmus.

Conclusion: This case describes an unusual presentation of Straatsma syndrome and investigates the clinical features of this disease. The patient's constellation of findings is most easily explained as bilateral myelination serving as the catalyst for the associated findings of myopia and nystagmus.

Publication types

  • Case Reports

MeSH terms

  • Amblyopia / etiology
  • Humans
  • Male
  • Nerve Fibers, Myelinated / pathology
  • Nystagmus, Congenital / etiology*
  • Optic Nerve Diseases / complications*
  • Optic Nerve Diseases / pathology
  • Strabismus / etiology
  • Syndrome
  • Young Adult

Supplementary concepts

  • Nystagmus 1, congenital, X- linked