title: Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
abstract: OBJECTIVE
  To describe the unusual clinical manifestations and diagnostic evaluation of X-linked retinoschisis (XLR).
  
  
  METHODS
  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.
authors.affiliation: Aravind Eye Hospital & Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India. daksh66@gmail.com
authors.forename: Dhananjay
authors.initials: D
authors.lastname: Shukla
authors.forename: Anand
authors.initials: A
authors.lastname: Rajendran
authors.forename: Daniel
authors.initials: D
authors.lastname: Gibbs
authors.forename: Balasubbu
authors.initials: B
authors.lastname: Suganthalakshmi
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D012163:Retinal Detachment / Q000175:diagnosis; D041441:Retinoschisis / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human