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A.-M. Lobo, C. Westerfeld, S. Mukai; Full-Thickness Macular Hole in X-Linked Retinoschisis. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2160.
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X-linked retinoschisis (XLR) causes visual loss in boys. It is associated with abnormalities in the RS1 gene that encodes the retinoschisin protein, believed to play a role in cell-cell interaction and cell adhesion in the retina. While the classic clinical finding is foveal retinoschisis (RS), other signs include peripheral RS, vitreous veils, vitreous hemorrhage, and retinal detachment (RD). Full-thickness macular hole (FTMH) is extremely rare in XLR with only three cases reported in the literature of which two were in atypical XLR. We report three cases of FTMH in otherwise typical XLR eyes.
We reviewed all cases of XLR that developed or presented with FTMH seen by one surgeon in the Retina Service of the Massachusetts Eye and Ear Infirmary between 2003 and 2007. Three cases were found with foveal RS OU and FTMH in one eye by clinical examination and OCT. Case 1 has been followed for XLR since age 2. He underwent surgical repair for vitreomacular traction OD at age 3 and later for a superonasal peripheral RD OD at age 10. He sustained blunt trauma OD at age 14 and developed a FTMH. Since the vision OD with FTMH was unchanged after the trauma due to amblyopia, no intervention was recommended. OD has been stable for 4 years. Case 2 has been followed for XLR since age 6. He is a first cousin of Case 1. He noted spontaneous decrease in vision OS with a macular cyst at age 7 that developed into a FTMH over 6 months. The hole enlarged over the next 12 months and surgery was performed without closure of the hole. Case 3 is a 3-year-old boy with no history of trauma who presented with unexplained decrease in vision and was found to have XLR OU and FTMH OD. The FTMH enlarged slightly over the next 8 months. Surgery was performed this week.
All cases were typical for XLR except for the FTMH in one eye. Only one case had a history of trauma. Spontaneous closure of the FTMH was not seen in any case, and there was at least some progression after the initial diagnosis. Surgery was not successful in one case and has yet to be determined in another. The other eye has remained stable.
FTMH is rare in XLR. The pathogenesis is unknown but trauma and spontaneous unroofing of a macular cyst appear to play a role in two of the cases presented. Spontaneous closure was not observed, and initial surgical results are not promising. FTMH formation in XLR in two members of one family raises the question of genetic predisposition. Testing for RS1 mutations is currently under way to evaluate for a possible genotype-phenotype correlation.
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