Retinosquisis ligada al cromosoma X, presentación inusual: estrabismo

X linked retinoschisis is one of the leading causes of macular degeneration in male children. Clinical features include a stellate foveal schisis, with or without peripheral retinoschisis. Clinical diagnosis is often difficult because of a high degree of phenotype variability. Furthermore, ERG and OCT may be normal in early stages of the disease. In our opinion, the XLRS1 gene mutation screening provides a powerful clinical tool for evaluating clinically ambiguous cases of X linked retinoschisis.