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

Andréasson, Sten LU ; Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Ehinger, Berndt LU ; Wu, W; Fujita, R; Buraczynska, M and Swaroop, A (1997) In American Journal of Ophthalmology 124(1). p.95-102
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... (More)
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. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
American Journal of Ophthalmology
volume
124
issue
1
pages
95 - 102
publisher
Elsevier
external identifiers
  • pmid:9222238
  • scopus:0030756190
ISSN
1879-1891
language
English
LU publication?
yes
id
8570fd1b-05de-4c42-b97f-4be975f7329f (old id 1111367)
date added to LUP
2008-07-17 11:53:41
date last changed
2017-01-01 07:02:54
@article{8570fd1b-05de-4c42-b97f-4be975f7329f,
  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.},
  author       = {Andréasson, Sten and Ponjavic, Vesna and Abrahamson, Magnus and Ehinger, Berndt and Wu, W and Fujita, R and Buraczynska, M and Swaroop, A},
  issn         = {1879-1891},
  language     = {eng},
  number       = {1},
  pages        = {95--102},
  publisher    = {Elsevier},
  series       = {American Journal of Ophthalmology},
  title        = {Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene},
  volume       = {124},
  year         = {1997},
}