Report of a X linked retinoschisis case

Poster Details

First Author: C.Plaza Laguardia SPAIN

Co Author(s):    M. Cuesta Lasso   A. Mateos Hernandez   M. Franco Benito   J. Sanchez Canizal   A. Rodriguez Castelblanco   A. Francia              

Abstract Details


X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy and is characterized by foveal schisis. It begins in childhood and occurs almost exclusively in males. The prevalence of XLRS varies from 1:5000 to 1:25000 men wordwide. We described a case of a boy diagnosed at the age of thirteen.


A 6 years old boy was evaluated in our hospital because of low vision, although his best corrected visual acuity (BCVA) was 20/50 in both eyes we could not do more tests as his parents discontinued the visits and they didn´t proceed with the hyperopic refraction prescribed.


At the age of thirteen he came again to our department referring visual deterioration in the last months, BCVA 20/40 on the right and 20/80 on the left eye. In the funduscopia we appreciated macular and lower predominant peripheral retinoschisis, pre-retinal fibrosis and deep exudation with vascular sheathing and whitish macular deposits in both eyes. The Spectral Domain optical coherence tomography (OCT) revealed retinoschisis at the internal nuclear and internal plexiform layer.


The child was derived to a reference centre were lower laser photocoagulation on the avascular area and periocular corticoid injection was performed. On suspicion of XLRS a genetic study was requested. The test was positive in hemicigosis for mutation c.421C>T (p.Arg141Cys) located in RS1 gen at chromosome Xp22.13, described to be associated to XLRS. At his last visit he presents bilateral hemovitreo.


Foveal schisis is the characteristic sign of XLRS and is present in 98–100% of cases. Peripheral retinoschisis is often noted in the inferotemporal region and occurs in more than a half. Fragmentation of the inner leaf can lead to membranous remnants referred to as vitreous veils. Vessels crossing between the walls of the schisis may be unsupported and at risk of haemorrhage. Additional peripheral changes may include pigmentation, sublinear retinal fibrosis, white retinal flecks and vascular attenuation or sheathing. Retinal detachments associated with XLRS are rhematogenous in origin owing to the development of peripheral retinal breaks. Sudden visual loss secondary to vitreous haemorrhage is an occasional presenting feature in older children.

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