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Vitreous Veils Associated With Congenital X-Linked Retinoschisis Online Only

J. Peter Campbell, MD, MPH1; Alison H. Skalet, MD, PhD1; Andreas K. Lauer, MD1
[+] Author Affiliations
1Casey Eye Institute, Oregon Health & Science University, Portland
JAMA Ophthalmol. 2015;133(8):e151155. doi:10.1001/jamaophthalmol.2015.1155.
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This case report illustrates vitreous veils associated with congenital X-linked retinoschisis in a young boy.

A young boy with congenital X-linked retinoschisis was referred for evaluation. Genetic analysis revealed a known mutation (R209C) in the retinoschisin 1 gene (OMIM 300839), which was also present in his brother and mother. Results of an examination of his right eye demonstrated peripapillary subretinal fibrosis from presumed prior choroidal neovascularization (a known but rare association),1 central macular retinoschisis, and an inferotemporal bullous retinoschisis (Figure, A). A fluorescein angiogram demonstrated only the most superficial retinal vessels on the inner schisis cavity with large intervening areas of nonperfusion (Figure, B). Retinoschisin is expressed throughout the retina and the peripheral bullous schisis. Although the classic description involves the nerve fiber layer, retinoschisis can occur at multiple retinal layers (recently confirmed with optical coherence tomography),2 with retinal blood vessels in the inner or the outer wall or crossing the schisis cavity.24 The thin inner schisis cavities develop progressively larger atrophic inner breaks to become the isolated vitreous veils, which are often associated with vitreous hemorrhage, a common presentation of X-linked retinoschisis.5

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Right eye. A, Fundus photograph shows inferotemporal bullous retinoschisis. B, Fluorescein angiogram shows superficial retinal vessels on the inner schisis cavity with large intervening areas of nonperfusion.

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