Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave
| Autor: | Jennifer A. Kemp, Julia E. Richards, Paul A. Sieving, Eve L. Bingham, Kelaginamane Hiriyanna |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Male medicine.medical_specialty X Chromosome Adolescent genetic structures Genetic Linkage Mutation Missense Retinoschisis Biology Arginine medicine.disease_cause Polymerase Chain Reaction Retina Diagnosis Differential Exon Internal medicine Electroretinography medicine Humans Missense mutation Scotopic vision Eye Proteins Mutation Retinal pigment epithelium medicine.diagnostic_test Retinal Degeneration Tryptophan Eye Diseases Hereditary DNA Exons Middle Aged medicine.disease eye diseases Pedigree Ophthalmology medicine.anatomical_structure Endocrinology sense organs Retinopathy |
| Zdroj: | American Journal of Ophthalmology. 128:179-184 |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/s0002-9394(99)00144-0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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