Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.

Purpose: To describe the unusual clinical manifestations and diagnostic evaluation of X-linked retinoschisis (XLR).

Design: Prospective, observational case series.

Methods: Eight patients with subnormal vision seeking treatment at a tertiary eye care center were evaluated clinically by optical coherence tomography (OCT) and electroretinography (ERG) in this prospective, noncomparative case series. Mutational screening was performed for the retinoschisin gene (RS1) by direct deoxyribonucleic acid (DNA) sequencing. The primary outcome measures were the clinical fundus findings and genetic results.

Results: The mean patient age was 16.4 years (range, two to 33 years). Family history was positive in seven patients. Four demonstrated atypical fundus findings of XLR bilaterally. Atypical features included macular dragging and distortion (seven eyes, five patients), macular pigmentary changes or scarring (five eyes; three patients), and bilateral exudative detachments (one patient). One patient had macular dragging and pigmentary changes bilaterally. ERG aided diagnosis in five patients: selective B-wave suppression was observed in all. OCT demonstrated typical retinal schitic cavities universally, including the eyes with macular dragging and scarring. Genetic studies confirmed the clinical diagnosis in all patients; two revealed novel mutations.

Conclusions: We identified unusual presentations of XLR with the help of ERG, OCT, family screening, and genetic analysis; OCT seems to be a consistent diagnostic aid across the clinical spectrum of XLR.