Copyright 2006 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2006
X-linked retinoschisis (XLR) is frequently associated with moderate vision loss. Severe vision loss usually is caused by peripheral retinoschisis with vitreous hemorrhage or a rhegmatogenous retinal detachment. We report 2 eyes from 1 patient with isolated posterior pole retinal detachments who had improved visual acuity and resolution of the detachments following vitrectomy and gas tamponade.
A 23-year-old man with a history of XLR was initially seen with a 2-day history of severe vision loss in his right eye. He stated that his baseline visual acuity was 20/60 OU because of retinoschisis but had suddenly deteriorated. His medical history was unremarkable. Family history revealed that his sister's son had been diagnosed with XLR.
On examination, visual acuity was counting fingers at 1 ft OD and 20/60 OS. Intraocular pressure and findings from pupillary examination and anterior segment examination were normal in both eyes. Dilated funduscopic examination of the right eye revealed a shallow retinal detachment isolated to the posterior pole. The inner retina and retinal vasculature appeared relatively normal; however, the outer retina exhibited prominent corrugations (Figure 1A). Careful biomicroscopic examination did not reveal any inner or outer wall holes in the area of detached retina. No optic pit was noted. No evidence of pigment in the vitreous cavity, peripheral retinal breaks, or lattice degeneration was found. Fluorescein angiography showed no leakage. Optical coherence tomography of the right eye demonstrated elevation of the neurosensory retina. There were large cystoid spaces within the outer plexiform layer and prominent corrugations within the outer retina (Figure 1B). Funduscopic examination of the left eye showed foveal schisis cavities characteristic of XLR. Optical coherence tomography of the left eye revealed cystoid spaces within the outer plexiform layer (Figure 2).
Preoperative images of the right eye. A, Color photograph of the right eye demonstrating the isolated macular detachment with prominent corrugations. B, Optical coherence tomography of the right eye demonstrating cystoid spaces within the outer plexiform layer and corrugations in the outer retina.
Optical coherence tomography of the left eye showing large cystoid spaces in the outer plexiform layer, with smaller cystoid spaces within the inner retina.
The patient underwent a standard 3-port pars plana vitrectomy in the right eye. A complete posterior vitreous detachment was created intraoperatively. No attempt was made to drain the subretinal fluid, and no laser photocoagulation was performed. No retinal breaks were identified. The vitreous cavity was filled with 20% sulfur hexafluoride gas and the patient maintained face-down positioning for 1 week.
One week postoperatively, the retinal detachment had resolved, and the visual acuity improved to 20/200 OD. At the 1 month visit, the visual acuity remained 20/200 OD, and the macular contour had improved (Figure 3A). Optical coherence tomography showed foveal cysts, but the subretinal fluid was gone (Figure 3B).
Postoperative images of the right eye. A, The right macula 1 month after surgery shows less prominent corrugations with improved macular contour. B, Optical coherence tomography of the right macula 1 month after vitrectomy shows resolved subretinal fluid, but the cystoid spaces remain.
Shortly thereafter, the patient complained of sudden vision loss in the left eye. The visual acuity was counting fingers at 2 ft OS. The clinical appearance was very similar to the initial examination of the right eye, showing a shallow posterior pole retinal detachment with outer retinal corrugations and inner retinal cysts, with no visible retinal breaks. The patient underwent a pars plana vitrectomy, mechanical separation of the hyaloid, and gas tamponade with 20% sulfur hexafluoride gas in this eye. One week later, the visual acuity had improved to 20/200, and the subretinal fluid had resorbed, but the foveal cysts remained.
At the 3-month postoperative visit for the left eye (4 months after surgery in the right eye), the visual acuity had improved to 20/100 OD and 20/60 OS. The retina remained flat and attached in both eyes, with optical coherence tomography showing an overall decrease in the amount of detachment and a decrease in the foveal cysts in the left eye.
Patients with XLR have a defect in the XLRS1 gene, which encodes retinoschisin, a protein that is believed to be essential to cellular adhesion.1 The abnormal retinoschisin may cause dysfunction of the Muller cells, which results in a schisis cavity.2
Most patients with XLR have mild to moderate vision loss due to foveal schisis, and this can gradually worsen during adulthood.3 Cases of severe vision loss are usually due to vitreous hemorrhage or a rhegmatogenous retinal detachment. Up to 22% of patients develop a rhegmatogenous retinal detachment attributable to peripheral retinal breaks.2
There are several reports detailing the surgical results of scleral buckling and vitrectomy for the repair of the rhegmatogenous retinal detachments in these patients.4,5 We are unaware of any previous reports in the literature describing nonrhegmatogenous macular retinal detachment as a cause of vision loss in XLR and could find no reference to it on a MEDLINE search.
We have described a patient with XLR who was initially seen with bilateral, sequential, macular retinal detachments, which were repaired via vitrectomy with short-acting gas tamponade. While pronounced corrugations suggest a rhegmatogenous origin, both clinical and intraoperative examinations failed to demonstrate retinal breaks, pigment, or hemorrhage in either eye. These could be exudative macular detachments. However, no other causes suggestive of an exudative process were identified, no leakage was present on the angiogram, and corrugations would not be expected. We believe that this case represents a variant of vitreomacular traction, which, when combined with the defective cellular adhesion of juvenile XLR, resulted in such a striking appearance.6 It is possible that the traction caused an enormous schisis cavity and relief of the traction improved the retinal contour. Gas tamponade was used to aid in the closure of a possible occult inner wall hole within the schisis cavity, but this may not have been necessary. Our experience suggests that these detachments may respond well to vitrectomy surgery with removal of the posterior hyaloid in combination with short-term gas tamponade.
Correspondence: Dr Garg, The Retina Service of Wills Eye Hospital, 840 Walnut St, Suite 1020, Philadelphia, PA 19107 (firstname.lastname@example.org).
Financial Disclosure: None reported.
Garg SJ, Lee HC, Grand MG. Bilateral Macular Detachments in X-linked Retinoschisis. Arch Ophthalmol. 2006;124(7):1053-1055. doi:10.1001/archopht.124.7.1053