Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

Sten Andréasson, Vesna Ponjavic, Magnus Abrahamson, Berndt Ehinger, W Wu, R Fujita, M Buraczynska, A Swaroop

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE: To assess the clinical phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. METHODS: Three families from different parts of Sweden, including nine patients with retinitis pigmentosa and six female carriers of X-linked retinitis pigmentosa, were examined clinically. Ophthalmologic examination included kinetic perimetry with a Goldmann perimeter using standardized objects I4e and V4e, dark adaptation final thresholds with a Goldmann-Weeker adaptometer, and full-field electroretinograms. RESULTS: The clinical findings in the patients demonstrated a severe form of retinitis pigmentosa with visual handicap early in life. Patients with a microdeletion of exons 8 through 10 of the RPGR gene had a more severe phenotype compared to the patients with single base-pair mutations in the introns 10 and 13 of the RPGR gene, resulting in splicing defects. Furthermore, heterozygous carriers in these families displayed a wide spectrum of clinical features, from minor symptoms to severe visual disability. CONCLUSION: These three families show a variable clinical phenotype resulting from different mutations in the RPGR gene. A microdeletion spanning at least parts of exons 8 through 10 seems to result in a severe phenotype compared to the splice defects. Heterozygous carriers of X-linked retinitis pigmentosa with these specific RPGR genotypes also show a variability of the phenotype; carriers with the microdeletion may be severely visually handicapped.
Original languageEnglish
Pages (from-to)95-102
JournalAmerican Journal of Ophthalmology
Volume124
Issue number1
Publication statusPublished - 1997

Subject classification (UKÄ)

  • Ophthalmology

Fingerprint

Dive into the research topics of 'Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene'. Together they form a unique fingerprint.

Cite this