Skip to main content
PMC home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1992 Aug;76(8):465–469. doi: 10.1136/bjo.76.8.465

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

A T Moore 1, F W Fitzke 1, C M Kemp 1, G B Arden 1, T J Keen 1, C F Inglehearn 1, S S Bhattacharya 1, A C Bird 1
PMCID: PMC504318  PMID: 1390527

Abstract

The time course of dark adaptation was measured in 10 subjects from three families with autosomal dominant sector retinitis pigmentosa (RP) due to mutations in the first exon of the rod opsin gene. In each subject cone adaptation and the early part of the recovery of rod sensitivity followed the normal time course, but the later phase of rod adaptation was markedly prolonged. The recovery of rod sensitivity is much slower than that reported in any other outer retinal dystrophy. Using a model based upon primate data of rod outer segment length and turnover, we have calculated that the delayed phase of the recovery of rod sensitivity in the RP patients tested following strong light adaptation could be due in part to formation of new disc membrane with its normal concentration of rhodopsin rather than in situ regeneration of photopigment.

Full text

PDF
465

Images in this article

467Image
on p.467

Selected References

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

  1. Alexander K. R., Fishman G. A. Prolonged rod dark adaptation in retinitis pigmentosa. Br J Ophthalmol. 1984 Aug;68(8):561–569. doi: 10.1136/bjo.68.8.561. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. 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]
  3. Berson E. L., Howard J. Temporal aspects of the electroretinogram in sector retinitis pigmentosa. Arch Ophthalmol. 1971 Dec;86(6):653–665. doi: 10.1001/archopht.1971.01000010655008. [DOI] [PubMed] [Google Scholar]
  4. Berson E. L., Rosner B., Sandberg M. A., Dryja T. P. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol. 1991 Jan;109(1):92–101. doi: 10.1001/archopht.1991.01080010094039. [DOI] [PubMed] [Google Scholar]
  5. Bhattacharya S. S., Wright A. F., Clayton J. F., Price W. H., Phillips C. I., McKeown C. M., Jay M., Bird A. C., Pearson P. L., Southern E. M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984 May 17;309(5965):253–255. doi: 10.1038/309253a0. [DOI] [PubMed] [Google Scholar]
  6. Blanton S. H., Heckenlively J. R., Cottingham A. W., Friedman J., Sadler L. A., Wagner M., Friedman L. H., Daiger S. P. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991 Dec;11(4):857–869. doi: 10.1016/0888-7543(91)90008-3. [DOI] [PubMed] [Google Scholar]
  7. Dryja T. P., McGee T. L., Hahn L. B., Cowley G. S., Olsson J. E., Reichel E., Sandberg M. A., Berson E. L. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990 Nov 8;323(19):1302–1307. doi: 10.1056/NEJM199011083231903. [DOI] [PubMed] [Google Scholar]
  8. Dryja T. P., McGee T. L., Reichel E., Hahn L. B., Cowley G. S., Yandell D. W., Sandberg M. A., Berson E. L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364–366. doi: 10.1038/343364a0. [DOI] [PubMed] [Google Scholar]
  9. Ernst W., Faulkner D. J., Hogg C. R., Powell D. J., Arden G. B., Vaegan An automated statis perimeter/adaptometer using light emitting diodes. Br J Ophthalmol. 1983 Jul;67(7):431–442. doi: 10.1136/bjo.67.7.431. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Farrar G. J., Jordan S. A., Kenna P., Humphries M. M., Kumar-Singh R., McWilliam P., Allamand V., Sharp E., Humphries P. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics. 1991 Dec;11(4):870–874. doi: 10.1016/0888-7543(91)90009-4. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. 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]
  13. Flannery J. G., Farber D. B., Bird A. C., Bok D. Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1989 Feb;30(2):191–211. [PubMed] [Google Scholar]
  14. Fulton A. B., Hansen R. M. The relation of rhodopsin and scotopic retinal sensitivity in sector retinitis pigmentosa. Am J Ophthalmol. 1988 Feb 15;105(2):132–140. doi: 10.1016/0002-9394(88)90175-4. [DOI] [PubMed] [Google Scholar]
  15. GOODMAN G., GUNKEL R. D. Familial electroretinographic and adaptometric studies in retinitis pigmentosa. Am J Ophthalmol. 1958 Sep;46(3 Pt 2):142–178. doi: 10.1016/0002-9394(58)90062-x. [DOI] [PubMed] [Google Scholar]
  16. 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]
  17. Inglehearn C. F., Jay M., Lester D. H., Bashir R., Jay B., Bird A. C., Wright A. F., Evans H. J., Papiha S. S., Bhattacharya S. S. No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity. Genomics. 1990 Jan;6(1):168–173. doi: 10.1016/0888-7543(90)90462-4. [DOI] [PubMed] [Google Scholar]
  18. 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]
  19. Jacobson S. G., Voigt W. J., Parel J. M., Apáthy P. P., Nghiem-Phu L., Myers S. W., Patella V. M. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology. 1986 Dec;93(12):1604–1611. doi: 10.1016/s0161-6420(86)33522-x. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. Keen J., Lester D., Inglehearn C., Curtis A., Bhattacharya S. Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet. 1991 Jan;7(1):5–5. doi: 10.1016/0168-9525(91)90004-a. [DOI] [PubMed] [Google Scholar]
  22. Keen T. J., Inglehearn C. F., Lester D. H., Bashir R., Jay M., Bird A. C., Jay B., Bhattacharya S. S. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics. 1991 Sep;11(1):199–205. doi: 10.1016/0888-7543(91)90119-y. [DOI] [PubMed] [Google Scholar]
  23. Kemp C. M., Jacobson S. G., Faulkner D. J. Two types of visual dysfunction in autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1988 Aug;29(8):1235–1241. [PubMed] [Google Scholar]
  24. 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]
  25. 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]
  26. 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]
  27. 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]
  28. Massof R. W., Finkelstein D. Vision threshold profiles in sector retinitis pigmentosa. Arch Ophthalmol. 1979 Oct;97(10):1899–1904. doi: 10.1001/archopht.1979.01020020347012. [DOI] [PubMed] [Google Scholar]
  29. Ott J., Bhattacharya S., Chen J. D., Denton M. J., Donald J., Dubay C., Farrar G. J., Fishman G. A., Frey D., Gal A. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A. 1990 Jan;87(2):701–704. doi: 10.1073/pnas.87.2.701. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Ripps H. Night blindness revisited: from man to molecules. Proctor lecture. Invest Ophthalmol Vis Sci. 1982 Nov;23(5):588–609. [PubMed] [Google Scholar]
  31. Sung C. H., Davenport C. M., Hennessey J. C., Maumenee I. H., Jacobson S. G., Heckenlively J. R., Nowakowski R., Fishman G., Gouras P., Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481–6485. doi: 10.1073/pnas.88.15.6481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. WALD G., ZEAVIN B. H. Rod and cone vision in retinitis pigmentosa. Am J Ophthalmol. 1956 Oct;42(4 Pt 2):253–269. doi: 10.1016/0002-9394(56)90377-4. [DOI] [PubMed] [Google Scholar]

Articles from The British Journal of Ophthalmology are provided here courtesy of BMJ Publishing Group

RESOURCES