Albinism Questions & Answers

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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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link]. [Full Text].

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

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. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link].

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.

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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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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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. [QxMD MEDLINE Link].

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

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

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

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

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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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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.

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.

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.

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, The Scientific Research Honor Society, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Donny W Suh, MD, MBA, FAAP, FACS Professor, Department of Ophthalmology, Chief of Pediatric Ophthalmology and Adult Strabismus, Medical Director of Eye-Mobile, Gavin Herbert Eye Institute, UC Irvine Health, University of California, Irvine, School of Medicine; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Chief Medical Officer, Suh Precision Syringe, LLC; Medical Staff, Children’s Hospital of Orange County

Donny W Suh, MD, MBA, FAAP, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, American College of Healthcare Executives, American College of Surgeons, American Medical Association, Section on Ophthalmology, American Ophthalmological Society, International Strabismological Association, Iowa Medical Society, Metro Omaha Medical Society, National Eye Care Project, Nebraska Chapter of American Academy of Pediatrics, ORBIS, Surgical Eye Expeditions (SEE) International

Disclosure: Nothing to disclose.

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

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