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. 1995 Jan;79(1):23–27. doi: 10.1136/bjo.79.1.23

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

R Y Kim 1, F W Fitzke 1, A T Moore 1, M Jay 1, C Inglehearn 1, G B Arden 1, S S Bhattacharya 1, A C Bird 1
PMCID: PMC505013  PMID: 7880785

Abstract

The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near normal) electrophysiology and psychophysics; moderately affected with mild symptoms, abnormal electroretinograms, and equal loss of rod and cone function in affected areas of the retina; and severely affected with extinguished electroretinograms and barely detectable dark adapted static threshold sensitivities. The mutation in the gene on 7p causing adRP in this family causes regional retinal dysfunction with greatly variable expressivity ranging from normal to profoundly abnormal in a manner not explained by age.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arden G. B., Carter R. M., Hogg C. R., Powell D. J., Ernst W. J., Clover G. M., Lyness A. L., Quinlan M. P. A modified ERG technique and the results obtained in X-linked retinitis pigmentosa. Br J Ophthalmol. 1983 Jul;67(7):419–430. doi: 10.1136/bjo.67.7.419. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Chen J. C., Fitzke F. W., Pauleikhoff D., Bird A. C. Functional loss in age-related Bruch's membrane change with choroidal perfusion defect. Invest Ophthalmol Vis Sci. 1992 Feb;33(2):334–340. [PubMed] [Google Scholar]
  3. Dryja T. P. Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye (Lond) 1992;6(Pt 1):1–10. doi: 10.1038/eye.1992.2. [DOI] [PubMed] [Google Scholar]
  4. Farrar G. J., Kenna P., Jordan S. A., Kumar-Singh R., Humphries M. M., Sharp E. M., Sheils D. M., Humphries P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):478–480. doi: 10.1038/354478a0. [DOI] [PubMed] [Google Scholar]
  5. Farrar G. J., Kenna P., Jordan S. A., Kumar-Singh R., Humphries M. M., Sharp E. M., Sheils D., Humphries P. Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics. 1992 Nov;14(3):805–807. doi: 10.1016/s0888-7543(05)80193-4. [DOI] [PubMed] [Google Scholar]
  6. Farrar G. J., McWilliam P., Bradley D. G., Kenna P., Lawler M., Sharp E. M., Humphries M. M., Eiberg H., Conneally P. M., Trofatter J. A. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics. 1990 Sep;8(1):35–40. doi: 10.1016/0888-7543(90)90223-h. [DOI] [PubMed] [Google Scholar]
  7. Fishman G. A., Stone E. M., Gilbert L. D., Kenna P., Sheffield V. C. Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch Ophthalmol. 1991 Oct;109(10):1387–1393. doi: 10.1001/archopht.1991.01080100067044. [DOI] [PubMed] [Google Scholar]
  8. Fishman G. A., Stone E. M., Gilbert L. D., Sheffield V. C. Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. Arch Ophthalmol. 1992 May;110(5):646–653. doi: 10.1001/archopht.1992.01080170068026. [DOI] [PubMed] [Google Scholar]
  9. Fishman G. A., Stone E. M., Sheffield V. C., Gilbert L. D., Kimura A. E. Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch Ophthalmol. 1992 Jan;110(1):54–62. doi: 10.1001/archopht.1992.01080130056026. [DOI] [PubMed] [Google Scholar]
  10. Hayakawa M., Hotta Y., Imai Y., Fujiki K., Nakamura A., Yanashima K., Kanai A. Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient. Am J Ophthalmol. 1993 Feb 15;115(2):168–173. doi: 10.1016/s0002-9394(14)73920-0. [DOI] [PubMed] [Google Scholar]
  11. Heckenlively J. R., Rodriguez J. A., Daiger S. P. Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol. 1991 Jan;109(1):84–91. doi: 10.1001/archopht.1991.01080010086038. [DOI] [PubMed] [Google Scholar]
  12. Inglehearn C. F., Carter S. A., Keen T. J., Lindsey J., Stephenson A. M., Bashir R., al-Maghtheh M., Moore A. T., Jay M., Bird A. C. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet. 1993 May;4(1):51–53. doi: 10.1038/ng0593-51. [DOI] [PubMed] [Google Scholar]
  13. Jacobson S. G., Kemp C. M., Sung C. H., Nathans J. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol. 1991 Sep 15;112(3):256–271. doi: 10.1016/s0002-9394(14)76726-1. [DOI] [PubMed] [Google Scholar]
  14. Jay M., Bird A. C., Moore A. N., Jay B. Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. J Med Genet. 1992 Dec;29(12):906–910. doi: 10.1136/jmg.29.12.906. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982 Jul;66(7):405–416. doi: 10.1136/bjo.66.7.405. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Kajiwara K., Hahn L. B., Mukai S., Travis G. H., Berson E. L., Dryja T. P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):480–483. doi: 10.1038/354480a0. [DOI] [PubMed] [Google Scholar]
  17. Kajiwara K., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993 Mar;3(3):208–212. doi: 10.1038/ng0393-208. [DOI] [PubMed] [Google Scholar]
  18. Kaplan J., Bonneau D., Frézal J., Munnich A., Dufier J. L. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet. 1990 Oct;85(6):635–642. doi: 10.1007/BF00193589. [DOI] [PubMed] [Google Scholar]
  19. Kemp C. M., Jacobson S. G., Roman A. J., Sung C. H., Nathans J. Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. Am J Ophthalmol. 1992 Feb 15;113(2):165–174. doi: 10.1016/s0002-9394(14)71529-6. [DOI] [PubMed] [Google Scholar]
  20. Kim R. Y., al-Maghtheh M., Fitzke F. W., Arden G. B., Jay M., Bhattacharya S. S., Bird A. C. Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5. Arch Ophthalmol. 1993 Nov;111(11):1518–1524. doi: 10.1001/archopht.1993.01090110084030. [DOI] [PubMed] [Google Scholar]
  21. Kranich H., Bartkowski S., Denton M. J., Krey S., Dickinson P., Duvigneau C., Gal A. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. Hum Mol Genet. 1993 Jun;2(6):813–814. doi: 10.1093/hmg/2.6.813. [DOI] [PubMed] [Google Scholar]
  22. Lester D. H., Inglehearn C. F., Bashir R., Ackford H., Esakowitz L., Jay M., Bird A. C., Wright A. F., Papiha S. S., Bhattacharya S. S. Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity. Am J Hum Genet. 1990 Sep;47(3):536–541. [PMC free article] [PubMed] [Google Scholar]
  23. Lyness A. L., Ernst W., Quinlan M. P., Clover G. M., Arden G. B., Carter R. M., Bird A. C., Parker J. A. A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 1985 May;69(5):326–339. doi: 10.1136/bjo.69.5.326. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Massof R. W., Finkelstein D. Two forms of autosomal dominant primary retinitis pigmentosa. Doc Ophthalmol. 1981 Nov;51(4):289–346. doi: 10.1007/BF00143336. [DOI] [PubMed] [Google Scholar]
  25. McWilliam P., Farrar G. J., Kenna P., Bradley D. G., Humphries M. M., Sharp E. M., McConnell D. J., Lawler M., Sheils D., Ryan C. Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics. 1989 Oct;5(3):619–622. doi: 10.1016/0888-7543(89)90031-1. [DOI] [PubMed] [Google Scholar]
  26. Moore A. T., Fitzke F. W., Kemp C. M., Arden G. B., Keen T. J., Inglehearn C. F., Bhattacharya S. S., Bird A. C. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br J Ophthalmol. 1992 Aug;76(8):465–469. doi: 10.1136/bjo.76.8.465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Moore A. T., Fitzke F., Jay M., Arden G. B., Inglehearn C. F., Keen T. J., Bhattacharya S. S., Bird A. C. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol. 1993 Aug;77(8):473–479. doi: 10.1136/bjo.77.8.473. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Sullivan L. J., Makris G. S., Dickinson P., Mulhall L. E., Forrest S., Cotton R. G., Loughnan M. S. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. Arch Ophthalmol. 1993 Nov;111(11):1512–1517. doi: 10.1001/archopht.1993.01090110078029. [DOI] [PubMed] [Google Scholar]
  30. Weleber R. G., Carr R. E., Murphey W. H., Sheffield V. C., Stone E. M. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol. 1993 Nov;111(11):1531–1542. doi: 10.1001/archopht.1993.01090110097033. [DOI] [PubMed] [Google Scholar]
  31. Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A., Jay M., Arden G., Bhattacharya S., Fitzke F. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213–218. doi: 10.1038/ng0393-213. [DOI] [PubMed] [Google Scholar]

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