title: Macular hole in juvenile X-linked retinoschisis.
abstract: An 18 year-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.
authors.affiliation: Residency in Ophthalmology Program - Riyadh Area, Saudi Arabia.
authors.forename: Nayef
authors.initials: N
authors.lastname: Al-Swaina
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Sawsan R
authors.initials: SR
authors.lastname: Nowilaty
keywords: Macular hole; Retinoschisis; Spectral-domain optical coherence tomography