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Macular hole in juvenile X-linked retinoschisisMacular hole in juvenile X-linked retinoschisis

Authors
Journal
Saudi Journal of Ophthalmology
1319-4534
Publisher
Elsevier
Volume
27
Issue
4
Identifiers
DOI: 10.1016/j.sjopt.2013.05.001
Keywords
  • Macular Hole
  • Retinoschisis
  • Spectral-Domain Optical Coherence Tomography
Disciplines
  • Medicine

Abstract

Abstract An 18year-old male with no antecedent of trauma, systemic syndrome or myopia was referred for surgical treatment of a full thickness macular hole in the left eye. A more careful inspection revealed discrete foveal cystic changes in the fellow eye and subtle peripheral depigmented retinal pigment epithelial changes in both eyes. A spectral-domain optical coherence tomography (SD-OCT) scan confirmed, in addition to the full thickness macular hole in the left eye, microcystic spaces in the nuclear layers of both retinae. The diagnosis of X-linked retinoschisis was confirmed with a full field electroretinogram displaying the typical negative ERG. Macular holes are uncommon in the young and those complicating X-linked retinoschisis are rare. This report highlights the importance of investigating the presence of a macular hole in a young patient and illustrates the clinical and SD-OCT clues beyond the foveal center which led to the correct diagnosis of X-linked juvenile retinoschisis.

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