Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave

Paul A. Sieving, Eve L. Bingham, Jennifer Kemp, Julia Richards, K. Hiriyanna

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE: To present an Arg213Trp missense mutation in the XLRS1 gene in a family with juvenile X-linked retinoschisis in which one affected male had a normal electroretinogram scotopic b-wave amplitude. METHODS: Two affected males and one unaffected male from this family with X-linked retinoschisis underwent standard clinical examination including an electroretinogram. Mutations in the XLRS1 gene were detected by sequence analysis and by restriction enzyme assay for loss of an MSP-I restriction site. RESULTS: A missense mutation of C to T at nucleotide position 637 was identified in exon 6 of the XLRS1 gene. This changed the positively charged arginine to a nonpolar tryptophan (Arg213Trp) within the biologically important discoidin domain. Clinical examination revealed intraretinal cysts in a spoke-wheel distribution and early macular atrophy of the retinal pigment epithelium. Whereas the older affected patient had an 'electronegative' electroretinogram typical of retinoschisis, the 13-year-old grandson with the same XLRS1 mutation had a normal electroretinogram scotopic b-wave. CONCLUSION: Although the electroretinogram is a key diagnostic test for X-linked retinoschisis, this report of a normal electroretinogram scotopic b-wave in a male with molecularly confirmed X-linked retinoschisis indicates that caution is advised in relying on the electroretinogram in differential diagnosis of this condition.

Original languageEnglish (US)
Pages (from-to)179-184
Number of pages6
JournalAmerican Journal of Ophthalmology
Volume128
Issue number2
DOIs
StatePublished - Aug 1999
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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