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. 1995 May;79(5):424–430. doi: 10.1136/bjo.79.5.424

Aland island eye disease: clinical and electrophysiological studies of a Welsh family.

N R Hawksworth 1, S Headland 1, P Good 1, N S Thomas 1, A Clarke 1
PMCID: PMC505128  PMID: 7612552

Abstract

Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, but a high proportion of female carriers, and some of the possibly affected males, show hypermetropia. Clinical ophthalmic examination and electrodiagnostic studies of retinal function were fully compatible with a diagnosis of either incomplete congenital stationary night blindness or of Aland island eye disease. Previous studies have mapped both disorders to the proximal short arm of the X chromosome: our molecular studies support this localisation. Incomplete congenital stationary nightblindness and Aland Island eye disease could be considered as a single entity.

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Selected References

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  1. Alitalo T., Kruse T. A., Forsius H., Eriksson A. W., de la Chapelle A. Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. Am J Hum Genet. 1991 Jan;48(1):31–38. [PMC free article] [PubMed] [Google Scholar]
  2. Apkarian P., Reits D., Spekreijse H., Van Dorp D. A decisive electrophysiological test for human albinism. Electroencephalogr Clin Neurophysiol. 1983 May;55(5):513–531. doi: 10.1016/0013-4694(83)90162-1. [DOI] [PubMed] [Google Scholar]
  3. Bartsocas C. S., Kastrantas A. D. X-linked form of myopia. Hum Hered. 1981;31(3):199–200. doi: 10.1159/000153207. [DOI] [PubMed] [Google Scholar]
  4. Carlson S., Vesti E., Raitta C., Donner M., Eriksson A. W., Forsius H. Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance. Acta Ophthalmol (Copenh) 1991 Dec;69(6):703–710. doi: 10.1111/j.1755-3768.1991.tb02047.x. [DOI] [PubMed] [Google Scholar]
  5. Creel D., O'Donnell F. E., Jr, Witkop C. J., Jr Visual system anomalies in human ocular albinos. Science. 1978 Sep 8;201(4359):931–933. doi: 10.1126/science.684419. [DOI] [PubMed] [Google Scholar]
  6. FORSIUS H., ERIKSSON A. W. EIN NEUES AUGENSYNDROM MIT X-CHROMOSOMAL TRANSMISSION. EINE SIPPE MIT FUNDUSALBINISMUS, FOVEAHYPOPLASIE, NYSTAGMUS, MYOPIE, ASTIGMATISMUS UND DYSCHROMATOPSIE. Klin Monbl Augenheilkd. 1964 Apr;144:447–457. [PubMed] [Google Scholar]
  7. Gal A., Schinzel A., Orth U., Fraser N. A., Mollica F., Craig I. W., Kruse T., Mächler M., Neugebauer M., Bleeker-Wagemakers L. M. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet. 1989 Mar;81(4):315–318. doi: 10.1007/BF00283682. [DOI] [PubMed] [Google Scholar]
  8. Glass I. A., Good P., Coleman M. P., Fullwood P., Giles M. G., Lindsay S., Nemeth A. H., Davies K. E., Willshaw H. A., Fielder A. Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. J Med Genet. 1993 Dec;30(12):1044–1050. doi: 10.1136/jmg.30.12.1044. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Heckenlively J. R., Martin D. A., Rosenbaum A. L. Loss of electroretinographic oscillatory potentials, optic atrophy, and dysplasia in congenital stationary night blindness. Am J Ophthalmol. 1983 Oct;96(4):526–534. doi: 10.1016/s0002-9394(14)77917-6. [DOI] [PubMed] [Google Scholar]
  10. Khouri G., Mets M. B., Smith V. C., Wendell M., Pass A. S. X-linked congenital stationary night blindness. Review and report of a family with hyperopia. Arch Ophthalmol. 1988 Oct;106(10):1417–1422. doi: 10.1001/archopht.1988.01060140581027. [DOI] [PubMed] [Google Scholar]
  11. Miyake Y., Kawase Y. Reduced amplitude of oscillatory potentials in female carriers of X-linked recessive congenital stationary night blindness. Am J Ophthalmol. 1984 Aug 15;98(2):208–215. doi: 10.1016/0002-9394(87)90356-4. [DOI] [PubMed] [Google Scholar]
  12. Miyake Y., Yagasaki K., Horiguchi M., Kawase Y., Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol. 1986 Jul;104(7):1013–1020. doi: 10.1001/archopht.1986.01050190071042. [DOI] [PubMed] [Google Scholar]
  13. Musarella M. A., Weleber R. G., Murphey W. H., Young R. S., Anson-Cartwright L., Mets M., Kraft S. P., Polemeno R., Litt M., Worton R. G. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics. 1989 Nov;5(4):727–737. doi: 10.1016/0888-7543(89)90114-6. [DOI] [PubMed] [Google Scholar]
  14. O'Donnell F. E., Jr, Hambrick G. W., Jr, Green W. R., Iliff W. J., Stone D. L. X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Arch Ophthalmol. 1976 Nov;94(11):1883–1892. doi: 10.1001/archopht.1976.03910040593001. [DOI] [PubMed] [Google Scholar]
  16. Pearce W. G., Bech-Hansen N. T. Gene locus for X-linked CSNB. Genomics. 1990 Dec;8(4):743–744. doi: 10.1016/0888-7543(90)90267-x. [DOI] [PubMed] [Google Scholar]
  17. Pearce W. G., Reedyk M., Coupland S. G. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol. 1990 Feb;25(1):3–10. [PubMed] [Google Scholar]
  18. Pillers D. A., Towbin J. A., Chamberlain J. S., Wu D., Ranier J., Powell B. R., McCabe E. R. Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am J Hum Genet. 1990 Nov;47(5):795–801. [PMC free article] [PubMed] [Google Scholar]
  19. Price M. J., Judisch G. F., Thompson H. S. X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. J Pediatr Ophthalmol Strabismus. 1988 Jan-Feb;25(1):33–36. doi: 10.3928/0191-3913-19880101-09. [DOI] [PubMed] [Google Scholar]
  20. Rosenberg T., Schwartz M., Simonsen S. E. Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family. Acta Ophthalmol (Copenh) 1990 Jun;68(3):281–291. doi: 10.1111/j.1755-3768.1990.tb01923.x. [DOI] [PubMed] [Google Scholar]
  21. Ruttum M. S., Lewandowski M. F., Bateman J. B. Affected females in X-linked congenital stationary night blindness. Ophthalmology. 1992 May;99(5):747–752. doi: 10.1016/s0161-6420(92)31902-5. [DOI] [PubMed] [Google Scholar]
  22. Schwartz M., Rosenberg T. Aland eye disease: linkage data. Genomics. 1991 Jun;10(2):327–332. doi: 10.1016/0888-7543(91)90315-6. [DOI] [PubMed] [Google Scholar]
  23. van Dorp D. B., Eriksson A. W., Delleman J. W., van Vliet A. G., Collewijn H., van Balen A. T., Forsius H. R. Aland eye disease: no albino misrouting. Clin Genet. 1985 Dec;28(6):526–531. doi: 10.1111/j.1399-0004.1985.tb00421.x. [DOI] [PubMed] [Google Scholar]

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