Oculocutaneous albinism type 1A: A case report

Dermatology Online Journal

Volumn 14, Issue 11, 2008, Pages

  Karaman, Ali ^a  

^a Erzurum Training and Research Hospital   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; COLOR VISION DEFECT; CONGENITAL NYSTAGMUS; HUMAN; HYPOPIGMENTATION; HYPOPLASIA; IRIS; MALE; MELANOGENESIS; OCULOCUTANEOUS ALBINISM; OCULOCUTANEOUS ALBINISM 1A; OPHTHALMOLOGY; PHOTOPHOBIA; PIGMENT EPITHELIUM; REFRACTION ERROR; RETINA FOVEA; VISUAL ACUITY; CLASSIFICATION; GENETICS; OCULAR ALBINISM; PHENOTYPE; PREVALENCE; RECESSIVE GENE; REVIEW;

MONOPHENOL MONOOXYGENASE;

ADOLESCENT; ALBINISM, OCULOCUTANEOUS; GENES, RECESSIVE; HUMANS; MALE; MONOPHENOL MONOOXYGENASE; PHENOTYPE; PREVALENCE; VISUAL ACUITY;

EID: 57049176010     PISSN: None     EISSN: 10872108     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Witkop CJ:Albinism:hematologic-storage disease,susceptibility to skin cancer,and optic neuronal defects shared in all types of oculocutaneous and ocular albinism.Ala J Med Sci1979;16: 327-330. PubMed
2. King RA,Hearing VJ,Creel DJ,Oetting WS:Albinism. In The Metabolic and Molecular bases of inherited Disease Edited by:Scriver CR, Beaudet AL,Sly WS and Valle D. New York, McGraw-Hill,Inc; 1995. P.4353-4392.
3. Oetting WS,King RA:Molecular basis of albinism:mutations and polymorphisms of pigmentation genes associated with albinism.Hum Mutat 1999;13: 99-115. PubMed
4. Rooryck C,Roudaut C,Robine E,Musebeck J, Arveiler B:Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.Pigment Cell Research 2006;19: 239-242. PubMed
5. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant H:Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism,OCA4. Am J Hum Genet 2001; 69: 981-988. PubMed
6. Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y:Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.Am J Hum Genet 2004; 74: 466-471. PubMed
7. King RA, Summers CG: Albinism. Dermatol Clin 1988; 6: 217-228. PubMed
8. Creel D, O'Donnell FE Jr., Witkop CJ Jr.:Visual system anomalies in human ocular albinos.Science 1978; 201:931-933. PubMed
9. Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI: Evoked potential analysis of visual pathways in human albinism.Ophthalmology 1994;101:309-314. PubMed
10. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S:Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.Biochem Biophys Res Commun 1989;164:990-996. PubMed
11. Kwon BS, Haq AK, Pomerantz SH, 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;84:7473-7477. PubMed
12. Cooksey CJ, Garratt PJ, Land EJ, Pavel S, Ramsden CA, Riley PA, Smit NP:Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase.J Biol Chem 1997;272: 26226-26235. PubMed
13. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD:A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.Nature 1993;361:72-76. PubMed
14. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA:Organization and sequence of the human P gene and identification of a new family of transport proteins.Genomics 1995;26:354-363. PubMed
15. Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ:The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase.Pigment Cell Res 2002;15:217-224. PubMed
16. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ:Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1)in melanocytes from an individual with brown oculocutaneous albinism:a new subtype of albinism classified as "OCA3".Am J Hum Genet 1996; 58:1145-1156. PubMed
17. Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA: Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1. Mamm Genome 1998;9:50-53. PubMed
18. Toyofuku K, Wada I, Valencia JC, Kushimoto T, Ferrans VJ, Hearing VJ:Oculocutaneous albinism types 1 and 3 are ER retention diseases:mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.FASEB J 2001;15: 2149-2161. PubMed
19. Fukamachi S, Shimada A, Shima A:Mutations in the gene encoding B, a novel transporter protein,reduce melanin content in medaka.Nat Genet 2001; 28: 381-385. PubMed