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  • Title: Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
    Author: Eksandh L, Andréasson S, Abrahamson M.
    Journal: Ophthalmic Genet; 2005 Sep; 26(3):111-7. PubMed ID: 16272055.
    Abstract:
    PURPOSE: To report four cases of genetically verified juvenile X-linked retinoschisis (XLRS) with normal scotopic b-waves in full-field ERG, including one patient with a novel mutation (W50X) in the RS1 gene. METHODS: Four XLRS patients from different families were examined with regard to visual acuity, kinetic perimetry, fundus photography, full-field ERG, and OCT. Two of these patients were also examined with multifocal-ERG (mfERG). Mutations in the RS1 gene were identified by sequence analysis. RESULTS: The full-field ERG presented normal b-wave amplitudes on scotopic white-light stimulation. OCT and mfERG presented macular schisis and macular dysfunction. Genetic analysis revealed a deletion of exon 1 and the promotor region in one patient and mutations giving rise to the amino acid substitutions R209C and W96R in two others. The fourth patient carried a novel mutation in exon 3 of the RS1 gene (nt 149 G-->A), causing the introduction of a stop codon after amino acid 49 in the RS protein. CONCLUSION: Four young males with XLRS did not present with reduction in the scotopic b-wave amplitude on full-field ERG, which is otherwise often considered to be characteristic of the disease. Full-field ERG and molecular genetic analysis of the RS1 gene still remain the most important diagnostic tools for this retinal disorder, although the OCT can be a valuable complement in order to make the diagnosis at an early stage.
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