Albinism Treatment & Management

  • Author: Mounir Bashour, MD, CM, FRCS(C), PhD, FACS; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Apr 10, 2012
 

Medical Care

Until late 2011, no potential effective treatment or cure existed for albinism, but the following may be helpful and a new medication may offer some potential hope:

  • Low-vision aids: No one device can serve the needs of all patients in all situations. Young children may simply need glasses, while older children may require bifocals. Occasionally, telescopic lenses mounted on glasses (bioptics) are prescribed for close-up work and distance vision. The use of Braille is not necessary as children with albinism read the dots visually.
  • Tinted glasses may be used to reduce photophobia. Some patients do not like tinted lenses; they may benefit from wearing a cap or visor when outdoors.
  • For the treatment of strabismus, it is preferred to start eye-patching infants at age 6 months (prior to completion of eye development). Some cases of strabismus may improve with glasses correction.
  • Nitisinone, which is approved by the US Food and Drug Administration (FDA) for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels and increases eye and hair pigmentation. Nitisinone may soon be a potential treatment for people with ocular albinism.[9, 10]
Next

Surgical Care

  • Albino persons with strabismus rarely achieve binocularity and depth perception after strabismus surgery, possibly because they lack the necessary neuronal connections.
  • Patients with albinism tend to do poorly after retinal detachment repair because of nystagmus and inherently weak retinal pigment epithelium–retinal adhesions.
Previous
Next

Consultations

  • Consult a hematologist if a patient is diagnosed with Chediak-Higashi syndrome (CHS) or Hermansky-Pudlak syndrome (HPS).
  • Consultation with a genetic counselor may be helpful.
Previous
Proceed to Medication
 
 
Contributor Information and Disclosures
Author

Mounir Bashour, MD, CM, FRCS(C), PhD, FACS  Assistant Professor of Ophthalmology, McGill University; Clinical Assistant Professor of Ophthalmology, Sherbrooke University; Medical Director, Cornea Laser and Lasik MD

Mounir Bashour, MD, CM, FRCS(C), PhD, 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, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Coauthor(s)

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, and Ontario Medical Association

Disclosure: Nothing to disclose.

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, and Ontario Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and American Ophthalmological Society

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

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, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

  1. Summers CG. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. Jun 2009;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. Aug 2005;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. Apr 2006;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. Oct 2005;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. Oct 1992;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. Apr 2004;137(4):625-9. [Medline].

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

  8. 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. Jun 2003;87(6):767-72. [Medline].

  9. 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. Oct 2011;121(10):3914-23. [Medline]. [Full Text].

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

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

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

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

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

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

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

  17. Kanski JJ. Albinism. Clin Ophthalmol. 1999;459-461.

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

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

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

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

  22. 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. Feb 24 1994;330(8):529-34. [Medline].

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

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

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

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

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

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

  29. 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. Jun 2002;15(3):217-24. [Medline].

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

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

  32. 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].

 
Previous
Next
 
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



Previous
Next
 
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.