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Albinism Differential Diagnoses

  • Author: Mounir Bashour, MD, PhD, CM, FRCSC, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Mar 22, 2016
 
 
 
Contributor Information and Disclosures
Author

Mounir Bashour, MD, PhD, CM, FRCSC, FACS Assistant Professor of Ophthalmology, McGill University Faculty of Medicine; Clinical Assistant Professor of Ophthalmology, Sherbrooke University; Medical Director, Cornea Laser and Lasik MD

Mounir Bashour, MD, PhD, CM, FRCSC, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American College of International Physicians, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, American Society of Mechanical Engineers, American Society of Ophthalmic Plastic and Reconstructive Surgery, Biomedical Engineering Society, Canadian Medical Association, Canadian Ophthalmological Society, Contact Lens Association of Ophthalmologists, International College of Surgeons US Section, Ontario Medical Association, Quebec Medical Association, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Coauthor(s)

Iqbal Ike K Ahmed, MD, FRCSC Clinical Assistant Professor, Department of Ophthalmology, University of Utah

Iqbal Ike K Ahmed, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American Society of Cataract and Refractive Surgery, Canadian Ophthalmological Society, Ontario Medical Association

Disclosure: Nothing to disclose.

Khalid Hasanee, MD Glaucoma and Anterior Segment Fellow, Department of Ophthalmology, University of Toronto

Khalid Hasanee, MD is a member of the following medical societies: Canadian Medical Association, Canadian Ophthalmological Society, Ontario Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

J James Rowsey, MD Former Director of Corneal Services, St Luke's Cataract and Laser Institute

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Sigma Xi, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Gerhard W Cibis, MD Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas School of Medicine

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Ophthalmological Society

Disclosure: Nothing to disclose.

References
  1. Summers CG. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. 2009 Jun. 86(6):659-62. [Medline].

  2. Schiaffino MV, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Pigment Cell Res. 2005 Aug. 18(4):227-33. [Medline].

  3. Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV. The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor. Pigment Cell Res. 2006 Apr. 19(2):125-35. [Medline].

  4. Wang T, Waters CT, Jakins T, et al. Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. Br J Ophthalmol. 2005 Oct. 89(10):1383-4. [Medline].

  5. Ramsay M, Colman MA, Stevens G, et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet. 1992 Oct. 51(4):879-84. [Medline].

  6. Brodsky MC, Fray KJ. Positive angle kappa: a sign of albinism in patients with congenital nystagmus. Am J Ophthalmol. 2004 Apr. 137(4):625-9. [Medline].

  7. Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G. Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. Int Ophthalmol. 2014 Feb 14. [Medline].

  8. Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, et al. Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. Ophthalmology. 2013 Dec. 120(12):2714-24. [Medline].

  9. Bradfield YS, France TD, Verhoeve J, Gangnon RE. Sweep visual evoked potential testing as a predictor of recognition acuity in albinism. Arch Ophthalmol. 2007 May. 125(5):628-33. [Medline].

  10. Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE. The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol. 2003 Jun. 87(6):767-72. [Medline].

  11. Onojafe IF, Adams DR, Simeonov DR, et al. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest. 2011 Oct. 121(10):3914-23. [Medline]. [Full Text].

  12. Manga P, Orlow SJ. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. J Clin Invest. 2011 Oct. 121(10):3828-31. [Medline]. [Full Text].

  13. Carden SM, Boissy RE, Schoettker PJ, Good WV. Albinism: modern molecular diagnosis. Br J Ophthalmol. 1998 Feb. 82(2):189-95. [Medline].

  14. Charles SJ, Green JS, Grant JW, Yates JR, Moore AT. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol. 1993 Apr. 77(4):222-7. [Medline]. [Full Text].

  15. Creel D, Witkop CJ Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol. 1974 Jun. 13(6):430-40. [Medline].

  16. Cullom RD, Chang B. Albinism. Wills Eye Manual: Office & Emergency Room Diagnosis & Treatment of Eye Disease. 2nd ed. Lippincott Williams & Wilkins: 1994. 408-409.

  17. Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. 1980 May. 4(3):243-54. [Medline].

  18. Giebel LB, Tripathi RK, Strunk KM, et al. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet. 1991 Jun. 48(6):1159-67. [Medline].

  19. Kanski JJ. Albinism. Clin Ophthalmol. 1999. 459-461.

  20. King RA, Hearing VJ, Creed DJ, Oetting WS. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. McGraw-Hill; 1995. 4353-92.

  21. King RA, Pietsch J, Fryer JP, et al. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003 Nov. 113(6):502-13. [Medline].

  22. King RA, Summers CG. Albinism. Dermatol Clin. 1988 Apr. 6(2):217-28. [Medline].

  23. King RA, Summers GC, Haefemeyer JW, LeRoy B. Facts About Albinism. [Full Text].

  24. Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. 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):529-34. [Medline].

  25. Oetting WS. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. Pigment Cell Res. 2000 Oct. 13(5):320-5. [Medline].

  26. Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug. 2(8):330-5. [Medline].

  27. Oetting WS, King RA. Molecular basis of oculocutaneous albinism. J Invest Dermatol. 1994 Nov. 103(5 Suppl):131S-136S. [Medline].

  28. Oetting WS, Summers CG, King RA. Albinism and the associated ocular defects. Metab Pediatr Syst Ophthalmol. 1994. 17(1-4):5-9. [Medline].

  29. Spritz RA. Molecular genetics of oculocutaneous albinism. Semin Dermatol. 1993 Sep. 12(3):167-72. [Medline].

  30. Tomita Y. The molecular genetics of albinism and piebaldism. Arch Dermatol. 1994 Mar. 130(3):355-8. [Medline].

  31. Toyofuku K, Valencia JC, Kushimoto T, et al. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002 Jun. 15(3):217-24. [Medline].

  32. Traboulsi EI, Green WR, O'Donnel FE Jr. The eye in albinism. Duane's Clinical Ophthalmology. Lippincott-Raven; 1999. Vol 4: 1-20.

  33. Witkop CJ Jr, Nance WE, Rawls RF, White JG. Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet. 1970 Jan. 22(1):55-74. [Medline].

  34. Zahed L, Zahreddine H, Noureddine B, et al. Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. J Hum Genet. 2005. 50(6):317-9. [Medline].

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Table 1. Oculocutaneous Albinism Types
OCA SubtypesGene PositionAffected Protein
OCA 1
  • OCA 1A (tyrosinase-negative OCA)
  • OCA 1B (yellow-mutant/Amish/
  • xanthous, temperature-sensitive)
  • OCA 1A/1B heterozygote
11q14-21Tyrosinase
OCA 2



(tyrosinase-positive OCA, brown OCA)



15q11-13P protein
OCA 39p23Tyrosinase-related protein
Table 2. Ocular Albinism Types
OA SubtypesGene PositionAffected Protein
OA 1 (X-linked recessive OA/Nettleshop-Falls type)X p22.3-22.2The protein product of the OA 1 gene named OA 1 (and also identified as GPR143 in GenBank)[2, 3]
AROANot a distinct positionTyrosinase in some cases;



P protein in some cases



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