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. 1999 Jun;80(6):565–569. doi: 10.1136/adc.80.6.565

Oculocutaneous albinism

S Biswas 1, I Lloyd 1
PMCID: PMC1717945  PMID: 10332009

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Selected References

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

  1. Abadi R. V., Pascal E. Periodic alternating nystagmus in humans with albinism. Invest Ophthalmol Vis Sci. 1994 Nov;35(12):4080–4086. [PubMed] [Google Scholar]
  2. Abadi R. V., Pascal E. Visual resolution limits in human albinism. Vision Res. 1991;31(7-8):1445–1447. doi: 10.1016/0042-6989(91)90063-b. [DOI] [PubMed] [Google Scholar]
  3. Boissy R. E., Nordlund J. J. Molecular basis of congenital hypopigmentary disorders in humans: a review. Pigment Cell Res. 1997 Feb-Apr;10(1-2):12–24. doi: 10.1111/j.1600-0749.1997.tb00461.x. [DOI] [PubMed] [Google Scholar]
  4. Bouchard B., Del Marmol V., Jackson I. J., Cherif D., Dubertret L. Molecular characterization of a human tyrosinase-related-protein-2 cDNA. Patterns of expression in melanocytic cells. Eur J Biochem. 1994 Jan 15;219(1-2):127–134. doi: 10.1111/j.1432-1033.1994.tb19922.x. [DOI] [PubMed] [Google Scholar]
  5. Cobo-Lewis A. B., Siatkowski R. M., Laviña A. M., Marquez L. C. Poor stereopsis can support size constancy in albinism. Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2800–2809. [PubMed] [Google Scholar]
  6. Cocker K. D., Moseley M. J., Stirling H. F., Fielder A. R. Delayed visual maturation: pupillary responses implicate subcortical and cortical visual systems. Dev Med Child Neurol. 1998 Mar;40(3):160–162. doi: 10.1111/j.1469-8749.1998.tb15440.x. [DOI] [PubMed] [Google Scholar]
  7. Cohen T., Muller R. M., Tomita Y., Shibahara S. Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Res. 1990 May 11;18(9):2807–2808. doi: 10.1093/nar/18.9.2807. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Colello R. J., Jeffery G. Evaluation of the influence of optic stalk melanin on the chiasmatic pathways in the developing rodent visual system. J Comp Neurol. 1991 Mar 8;305(2):304–312. doi: 10.1002/cne.903050211. [DOI] [PubMed] [Google Scholar]
  9. Collewijn H., Apkarian P., Spekreijse H. The oculomotor behaviour of human albinos. Brain. 1985 Mar;108(Pt 1):1–28. doi: 10.1093/brain/108.1.1. [DOI] [PubMed] [Google Scholar]
  10. Creel D. J., Bendel C. M., Wiesner G. L., Wirtschafter J. D., Arthur D. C., King R. A. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. N Engl J Med. 1986 Jun 19;314(25):1606–1609. doi: 10.1056/NEJM198606193142503. [DOI] [PubMed] [Google Scholar]
  11. Creel D., Witkop C. J., Jr, King R. A. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol. 1974 Jun;13(6):430–440. [PubMed] [Google Scholar]
  12. Curran R. E., Robb R. M. Isolated foveal hypoplasia. Arch Ophthalmol. 1976 Jan;94(1):48–50. doi: 10.1001/archopht.1976.03910030014005. [DOI] [PubMed] [Google Scholar]
  13. Fielder A. R., Evans N. M. Is the geniculostriate system a prerequisite for nystagmus? Eye (Lond) 1988;2(Pt 6):628–635. doi: 10.1038/eye.1988.116. [DOI] [PubMed] [Google Scholar]
  14. Fitzgerald B. A., Billson F. A. Dissociated vertical deviation: evidence of abnormal visual pathway projection. Br J Ophthalmol. 1984 Nov;68(11):801–806. doi: 10.1136/bjo.68.11.801. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Fitzgerald K., Cibis G. W. The value of flash visual evoked potentials in albinism. J Pediatr Ophthalmol Strabismus. 1994 Jan-Feb;31(1):18–25. doi: 10.3928/0191-3913-19940101-05. [DOI] [PubMed] [Google Scholar]
  16. Fulcher T., O'Keefe M., Bowell R., Lanigan B., Burke T., Carr A., O'Rourke M., Bolger M. Intellectual and educational attainment in albinism. J Pediatr Ophthalmol Strabismus. 1995 Nov-Dec;32(6):368–372. doi: 10.3928/0191-3913-19951101-09. [DOI] [PubMed] [Google Scholar]
  17. Giebel L. B., Strunk K. M., Spritz R. A. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics. 1991 Mar;9(3):435–445. doi: 10.1016/0888-7543(91)90409-8. [DOI] [PubMed] [Google Scholar]
  18. Gradstein L., Reinecke R. D., Wizov S. S., Goldstein H. P. Congenital periodic alternating nystagmus. Diagnosis and Management. Ophthalmology. 1997 Jun;104(6):918–929. doi: 10.1016/s0161-6420(97)30206-1. [DOI] [PubMed] [Google Scholar]
  19. Gregor Z. The perifoveal vasculature in albinism. Br J Ophthalmol. 1978 Aug;62(8):554–557. doi: 10.1136/bjo.62.8.554. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Guillery R. W., Okoro A. N., Witkop C. J., Jr Abnormal visual pathways in the brain of a human albino. Brain Res. 1975 Oct 17;96(2):373–377. doi: 10.1016/0006-8993(75)90750-7. [DOI] [PubMed] [Google Scholar]
  21. Guillery R. W. Why do albinos and other hypopigmented mutants lack normal binocular vision, and what else is abnormal in their central visual pathways? Eye (Lond) 1996;10(Pt 2):217–221. doi: 10.1038/eye.1996.49. [DOI] [PubMed] [Google Scholar]
  22. Halaban R., Moellmann G. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity. Proc Natl Acad Sci U S A. 1990 Jun;87(12):4809–4813. doi: 10.1073/pnas.87.12.4809. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Jackson I. J., Chambers D. M., Tsukamoto K., Copeland N. G., Gilbert D. J., Jenkins N. A., Hearing V. A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus. EMBO J. 1992 Feb;11(2):527–535. doi: 10.1002/j.1460-2075.1992.tb05083.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Jeffery G. The albino retina: an abnormality that provides insight into normal retinal development. Trends Neurosci. 1997 Apr;20(4):165–169. doi: 10.1016/s0166-2236(96)10080-1. [DOI] [PubMed] [Google Scholar]
  25. King R. A., Lewis R. A., Townsend D., Zelickson A., Olds D. P., Brumbaugh J. Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. Ophthalmology. 1985 Nov;92(11):1496–1505. doi: 10.1016/s0161-6420(85)33832-0. [DOI] [PubMed] [Google Scholar]
  26. King R. A., Witkop C. J., Jr Hairbulb tyrosinase activity in oculocutaneous albinism. Nature. 1976 Sep 2;263(5572):69–71. doi: 10.1038/263069a0. [DOI] [PubMed] [Google Scholar]
  27. Kinnear P. E., Jay B., Witkop C. J., Jr Albinism. Surv Ophthalmol. 1985 Sep-Oct;30(2):75–101. doi: 10.1016/0039-6257(85)90077-3. [DOI] [PubMed] [Google Scholar]
  28. Kriss A., Russell-Eggitt I., Harris C. M., Lloyd I. C., Taylor D. Aspects of albinism. Ophthalmic Paediatr Genet. 1992 Jun;13(2):89–100. doi: 10.3109/13816819209087609. [DOI] [PubMed] [Google Scholar]
  29. Kriss A., Timms C., Elston J., Taylor D., Gresty M. Visual evoked potentials in dissociated vertical deviation: a reappraisal. Br J Ophthalmol. 1989 Apr;73(4):265–270. doi: 10.1136/bjo.73.4.265. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Kwon B. S., Haq A. K., Pomerantz S. H., Halaban R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7473–7477. doi: 10.1073/pnas.84.21.7473. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Lambert S. R., Kriss A., Taylor D. Delayed visual maturation. A longitudinal clinical and electrophysiological assessment. Ophthalmology. 1989 Apr;96(4):524–529. doi: 10.1016/s0161-6420(89)32863-6. [DOI] [PubMed] [Google Scholar]
  32. Lee S. T., Nicholls R. D., Bundey S., Laxova R., Musarella M., Spritz R. A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994 Feb 24;330(8):529–534. doi: 10.1056/NEJM199402243300803. [DOI] [PubMed] [Google Scholar]
  33. Marcus R. C., Wang L. C., Mason C. A. Retinal axon divergence in the optic chiasm: midline cells are unaffected by the albino mutation. Development. 1996 Mar;122(3):859–868. doi: 10.1242/dev.122.3.859. [DOI] [PubMed] [Google Scholar]
  34. Meienberg O., Hemphill G., Rosenberg M., Hoyt W. F. Visually evoked response asymmetries in a family with congenital nystagmus: possible evidence of abnormal visual projections. Arch Neurol. 1980 Nov;37(11):697–698. doi: 10.1001/archneur.1980.00500600045008. [DOI] [PubMed] [Google Scholar]
  35. Mietz H., Green W. R., Wolff S. M., Abundo G. P. Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. Retina. 1992;12(3):254–260. doi: 10.1097/00006982-199212030-00011. [DOI] [PubMed] [Google Scholar]
  36. Murty V. V., Bouchard B., Mathew S., Vijayasaradhi S., Houghton A. N. Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics. 1992 May;13(1):227–229. doi: 10.1016/0888-7543(92)90228-k. [DOI] [PubMed] [Google Scholar]
  37. Nance W. E., Jackson C. E., Witkop C. J., Jr Amish albinism: a distinctive autosomal recessive phenotype. Am J Hum Genet. 1970 Sep;22(5):579–586. [PMC free article] [PubMed] [Google Scholar]
  38. Ponnazhagan S., Hou L., Kwon B. S. Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region. J Invest Dermatol. 1994 May;102(5):744–748. doi: 10.1111/1523-1747.ep12376924. [DOI] [PubMed] [Google Scholar]
  39. Ramsay M., Colman M. A., Stevens G., Zwane E., Kromberg J., Farrall M., Jenkins T. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet. 1992 Oct;51(4):879–884. [PMC free article] [PubMed] [Google Scholar]
  40. Roy M. S., Milot J. A., Polomeno R. C., Barsoum-Homsy M. Ocular findings and visual evoked potential response in the Prader-Willi syndrome. Can J Ophthalmol. 1992 Oct;27(6):307–312. [PubMed] [Google Scholar]
  41. Shallo-Hoffmann J., Apkarian P. Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus. Invest Ophthalmol Vis Sci. 1993 Mar;34(3):682–689. [PubMed] [Google Scholar]
  42. Summers C. G., King R. A. Ophthalmic features of minimal pigment oculocutaneous albinism. Ophthalmology. 1994 May;101(5):906–914. doi: 10.1016/s0161-6420(13)31250-0. [DOI] [PubMed] [Google Scholar]
  43. Taylor A. M., Jeffery G., Lieberman A. R. Subcortical afferent and efferent connections of the superior colliculus in the rat and comparisons between albino and pigmented strains. Exp Brain Res. 1986;62(1):131–142. doi: 10.1007/BF00237409. [DOI] [PubMed] [Google Scholar]
  44. Tresidder J., Fielder A. R., Nicholson J. Delayed visual maturation: ophthalmic and neurodevelopmental aspects. Dev Med Child Neurol. 1990 Oct;32(10):872–881. [PubMed] [Google Scholar]
  45. Wang L. C., Dani J., Godement P., Marcus R. C., Mason C. A. Crossed and uncrossed retinal axons respond differently to cells of the optic chiasm midline in vitro. Neuron. 1995 Dec;15(6):1349–1364. doi: 10.1016/0896-6273(95)90013-6. [DOI] [PubMed] [Google Scholar]
  46. Winder A., Kobayashi T., Tsukamoto K., Urabe K., Aroca P., Kameyama K., Hearing V. J. The tyrosinase gene family--interactions of melanogenic proteins to regulate melanogenesis. Cell Mol Biol Res. 1994;40(7-8):613–626. [PubMed] [Google Scholar]

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