Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
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.
Shukla
Dhananjay
D
Aravind Eye Hospital & Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India. daksh66@gmail.com
Rajendran
Anand
A
Gibbs
Daniel
D
Suganthalakshmi
Balasubbu
B
Zhang
Kang
K
Sundaresan
Periasamy
P
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
D005136:Eye Proteins; C108726:RS1 protein, human