Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1111367
- author
- Andréasson, Sten
LU
; Ponjavic, Vesna
LU
; Abrahamson, Magnus
LU
; Ehinger, Berndt
LU
; Wu, W ; Fujita, R ; Buraczynska, M and Swaroop, A
- organization
- publishing date
- 1997
- 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
- 2016-04-01 16:21:14
- date last changed
- 2022-01-28 19:06:49
@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}}, }