oculocutaneous albinism

Summary

Summary: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Top Publications

  1. Newton J, Cohen Barak O, Hagiwara N, Gardner J, Davisson M, King R, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001;69:981-8 pubmed
    b>Oculocutaneous albinism (OCA) affects approximately 1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation...
  2. Oetting W, Garrett S, Brott M, King R. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005;25:323 pubmed
    b>Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene...
  3. Gershoni Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi R, Spritz R. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet. 1994;54:586-94 pubmed
    We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel...
  4. Delong R. GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. Autism. 2007;11:135-47 pubmed
    ..or intellectual ability, and familial patterns of trait transmission, with the additional feature of oculocutaneous albinism in some cases...
  5. Shibahara S. Mutations of the tyrosinase gene in oculocutaneous albinism. Pigment Cell Res. 1992;5:279-83 pubmed
    Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a consequence of a mutation in the tyrosinase gene (Tomita et al., Biochem. Biophys. Res. Commun...
  6. Spritz R. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994;3 Spec No:1469-75 pubmed
    Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect ..
  7. Lezirovitz K, Nicastro F, Pardono E, Abreu Silva R, Batissoco A, Neustein I, et al. Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?. J Hum Genet. 2006;51:716-20 pubmed
    ..However, total oculocutaneous albinism (OCA) associated with deafness has been described only once, by Ziprkowski and Adam (Arch Dermatol 89:151-..
  8. Preising M, Forster H, Tan H, Lorenz B, De Jong P, Plomp A. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. Mol Vis. 2007;13:1851-5 pubmed
    To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported.
  9. Tripathi R, Bundey S, Musarella M, Droetto S, Strunk K, Holmes S, et al. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet. 1993;53:1173-9 pubmed
    b>Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment...

More Information

Publications75

  1. Rosemblat S, Sviderskaya E, Easty D, Wilson A, Kwon B, Bennett D, et al. Melanosomal defects in melanocytes from mice lacking expression of the pink-eyed dilution gene: correction by culture in the presence of excess tyrosine. Exp Cell Res. 1998;239:344-52 pubmed
    Mutations in the murine pink-eyed dilution (p) gene, or its human homologue P, result in oculocutaneous albinism. Melanocytes cultured from mice lacking p gene expression exhibit defective melanogenesis, but following culture in the ..
  2. King R, Townsend D, Oetting W, Summers C, Olds D, White J, et al. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest. 1991;87:1046-53 pubmed
    Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin...
  3. Boissy R, Zhao H, Oetting W, Austin L, Wildenberg S, Boissy Y, et al. 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;58:1145-56 pubmed
    Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci...
  4. Costin G, Valencia J, Vieira W, Lamoreux M, Hearing V. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. J Cell Sci. 2003;116:3203-12 pubmed
    b>Oculocutaneous albinism (OCA) type 4 is a newly identified human autosomal recessive hypopigmentary disorder that disrupts pigmentation in the skin, hair and eyes...
  5. Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004;23:106-10 pubmed
    b>Oculocutaneous albinism (OCA) is caused by a deficiency of melanin synthesis and characterized by generalized hypopigmentation of skin, hair, and eyes...
  6. Duan H, Li H, Wu W, Zheng H, Chen Z. [A novel P gene mutation in a Chinese family with oculocutaneous albinism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23:614-7 pubmed
    To investigate gene mutations of a consanguineous family with two oculocutaneous albinism (OCA) patients.
  7. Johanson H, Chen W, Wicking C, Sturm R. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. J Hum Genet. 2010;55:103-11 pubmed publisher
    b>Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene...
  8. Zahed L, Zahreddine H, Noureddine B, Rebeiz N, Shakar N, Zalloua P, et al. Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. J Hum Genet. 2005;50:317-9 pubmed
    b>Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme...
  9. Oetting W. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. Pigment Cell Res. 2000;13:320-5 pubmed
    ..Different mutations of the tyrosinase gene (TYR) , and their association with oculocutaneous albinism type 1 (OCA1) has provided insight into the biology of tyrosinase, including protein trafficking and ..
  10. Manga P, Boissy R, Pifko Hirst S, Zhou B, Orlow S. Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2. Exp Eye Res. 2001;72:695-710 pubmed
    ..The most common form, oculocutaneous albinism type 2, results from mutations at the p locus. The function of the p gene is yet to be determined...
  11. Lee S, Nicholls R, Schnur R, Guida L, Lu Kuo J, Spinner N, et al. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet. 1994;3:2047-51 pubmed
    Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes...
  12. Durham Pierre D, Gardner J, Nakatsu Y, King R, Francke U, Ching A, et al. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nat Genet. 1994;7:176-9 pubmed
    b>Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder...
  13. Toyofuku K, Valencia J, Kushimoto T, Costin G, Virador V, Vieira W, et al. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002;15:217-24 pubmed
    b>Oculocutaneous albinism (OCA) is caused by reduced or deficient melanin pigmentation in the skin, hair, and eyes. OCA has different phenotypes resulting from mutations in distinct pigmentation genes involved in melanogenesis...
  14. Sundaresan P, Sil A, Philp A, Randolph M, Natchiar G, Namperumalsamy P. Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. Mol Vis. 2004;10:1005-10 pubmed
    b>Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye...
  15. Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res. 2006;19:239-42 pubmed
    Non-syndromic oculocutaneous albinism (OCA) is a clinically and genetically heterogeneous autosomal recessive disorder with mutations identified in several genes: OCA1 (tyrosinase, TYR), OCA2 (OCA2), OCA3 (tyrosinase-related protein 1, ..
  16. Liu J, Choy K, Chan L, Leung T, Tam P, Chiang S, et al. Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. Clin Exp Ophthalmol. 2010;38:37-42 pubmed publisher
    To identify the sequence variants of the tyrosinase (TYR) gene in Chinese families with oculocutaneous albinism.
  17. Spritz R, Fukai K, Holmes S, Luande J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet. 1995;56:1320-3 pubmed
    Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes...
  18. Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, et al. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004;74:466-71 pubmed
    b>Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4)...
  19. Budisteanu M, Arghir A, Chirieac S, Cardos G, Lungeanu A. Oculocutaneous albinism associated with multiple malformations and psychomotor retardation. Pediatr Dermatol. 2010;27:212-4 pubmed publisher
    We present a case of oculocutaneous albinism in a child associating multiple malformations (preaxial polydactyly, small penis, cardiac malformation) and psychomotor retardation...
  20. Miyamura Y, Verma I, Saxena R, Hoshi M, Murase A, Nakamura E, et al. Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). J Invest Dermatol. 2005;125:397-8 pubmed
  21. Tripathi R, Strunk K, Giebel L, Weleber R, Spritz R. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet. 1992;43:865-71 pubmed
    Type I (tyrosinase-deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis...
  22. Stevens G, Ramsay M, Jenkins T. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Hum Genet. 1997;99:523-7 pubmed
    b>Oculocutaneous albinism (OCA2) is the most common autosomal recessive disorder in the South African Negroid population, occurring with a prevalence of 1/3900 individuals. The OCA2 locus, P, has been mapped to chromosome 15q11-q13 and a 2...
  23. Rinchik E, Bultman S, Horsthemke B, Lee S, Strunk K, Spritz R, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993;361:72-6 pubmed
    ..In addition, we report a mutation in both copies of the human P gene in one case of tyrosinase-positive (type II) oculocutaneous albinism, recently linked to 15q11-q13 (ref. 9).
  24. Zuhlke C, Stell A, Käsmann Kellner B. [Genetics of oculocutaneous albinism]. Ophthalmologe. 2007;104:674-80 pubmed
    ..Most frequent is oculocutaneous albinism (OCA), which is subdivided nowadays into four forms, OCA 1-OCA 4...
  25. Wang T, Waters C, Jakins T, Yates J, Trump D, Bradshaw K, et al. Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. Br J Ophthalmol. 2005;89:1383-4 pubmed
  26. Santiago Borrero P, Rodríguez Pérez Y, Renta J, Izquierdo N, Del Fierro L, Munoz D, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006;126:85-90 pubmed
    ..syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction...
  27. Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, et al. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2009;50:1058-64 pubmed publisher
    ..The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism...
  28. Goto M, Sato Matsumura K, Sawamura D, Yokota K, Nakamura H, Shimizu H. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. J Dermatol Sci. 2004;35:215-20 pubmed
    b>Oculocutaneous albinism (OCA) is a heterogeneous congenital disorder. Tyrosinase is a key enzyme in melanin biosynthesis, and tyrosinase gene mutations cause the OCA1 subtype.
  29. Hutton S, Spritz R. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008;128:2442-50 pubmed publisher
    b>Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes...
  30. Tomita Y, Takeda A, Matsunaga J, Okinaga S, Shibahara S, Tagami H. Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene. Pigment Cell Res. 1992;Suppl 2:96-100 pubmed
    ..identified two different mutations in the tyrosinase genes of Japanese patients with tyrosinase-negative oculocutaneous albinism (OCA)...
  31. Manga P, Kromberg J, Box N, Sturm R, Jenkins T, Ramsay M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet. 1997;61:1095-101 pubmed
    b>Oculocutaneous albinism (OCA) is the most common autosomal recessive disorder among southern African Blacks. There are three forms that account for almost all OCA types in this region...
  32. Oetting W, Gardner J, Fryer J, Ching A, Durham Pierre D, King R, et al. Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Hum Mutat. 1998;12:434 pubmed
    Mutations in the human P gene lead to oculocutaneous albinism type 2 (OCA2, MIM #203200), the most common type of albinism in humans...
  33. Spritz R, Strunk K, Hsieh C, Sekhon G, Francke U. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. Am J Hum Genet. 1991;48:318-24 pubmed
    We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide...
  34. Spritz R, Oh J, Fukai K, Holmes S, Ho L, Chitayat D, et al. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Hum Mutat. 1997;10:171-4 pubmed
  35. Ni Komatsu L, Orlow S. Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. Exp Eye Res. 2006;82:519-28 pubmed
    ..The effects of the pink-eyed dilution (p) gene product, in which mutations result in oculocutaneous albinism type 2 (OCA2), on the processing and trafficking of tyrosinase in this cell line were studied...
  36. Toyofuku K, Wada I, Spritz R, Hearing V. The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J. 2001;355:259-69 pubmed
    b>Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disease resulting from mutations of the tyrosinase gene (TYR)...
  37. Lund P. Oculocutaneous albinism in southern Africa: population structure, health and genetic care. Ann Hum Biol. 2005;32:168-73 pubmed
    People with oculocutaneous albinism (OCA) have reduced levels of melanin in their hair, skin and eyes, with associated visual impairment and extreme sun sensitivity requiring lifelong monitoring...
  38. King R, Mentink M, Oetting W. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med. 1991;8:19-29 pubmed
    Type I oculocutaneous albinism (OCA) is produced by mutations of the tyrosinase gene. We report four new missense mutations in the tyrosinase gene in patients with type IA OCA...
  39. Chaki M, Mukhopadhyay A, Ray K. Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification. Hum Mutat. 2005;26:53-8 pubmed
    Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3'-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2-cen)...
  40. Yi Z, Garrison N, Cohen Barak O, Karafet T, King R, Erickson R, et al. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am J Hum Genet. 2003;72:62-72 pubmed
    b>Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. There are four known types of OCA: OCA1-OCA4. The clinical manifestations of all types of OCA include skin and hair hypopigmentation and visual impairment...
  41. Simona B. Regional dermatological training center. Int J Dermatol. 2004;43:618-21 pubmed
  42. Oetting W, Fryer J, Shriram S, King R. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res. 2003;16:307-11 pubmed
    ..b>Oculocutaneous albinism type 1 (OCA1), resulting from mutations of the tyrosinase gene, is genetically and biochemically the best ..
  43. Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci. 2008;51:1-9 pubmed publisher
    ..And OCA4 is one of the most common types in Japanese patients, despite being rare worldwide...
  44. Rooryck C, Morice Picard F, Elcioglu N, Lacombe D, Taieb A, Arveiler B. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res. 2008;21:583-7 pubmed publisher
  45. Giebel L, Tripathi R, King R, Spritz R. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest. 1991;87:1119-22 pubmed
    Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase...
  46. Sengupta M, Chaki M, Arti N, Ray K. SLC45A2 variations in Indian oculocutaneous albinism patients. Mol Vis. 2007;13:1406-11 pubmed
    b>Oculocutaneous albinism (OCA) is an autosomal recessive disorder of melanin biosynthesis that results in congenital hypopigmentation of ocular and cutaneous tissues...
  47. Rosemblat S, Durham Pierre D, Gardner J, Nakatsu Y, Brilliant M, Orlow S. Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A. 1994;91:12071-75 pubmed
    ..is critical to melanogenesis; mutations in the homologous locus in humans, P, are a cause of type II oculocutaneous albinism. Although a cDNA encoded by the p gene has recently been identified, nothing is known about the protein ..
  48. Konno T, Abe Y, Kawaguchi M, Storm K, Biervliet M, Courtens W, et al. Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. Am J Med Genet A. 2009;149A:1773-6 pubmed publisher
    b>Oculocutaneous albinism type IV (OCA4 [MIM606574]) caused by mutations of the SLC45A2 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye...
  49. Oetting W, King R. Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. Hum Genet. 1992;90:258-62 pubmed
    Type I oculocutaneous albinism (OCA) is caused by the reduction in or absence of activity of tyrosinase in melanocytes in skin, hair, and the eyes, the result of mutations of the tyrosinase gene...
  50. Lee S, Nicholls R, Bundey S, Laxova R, Musarella M, Spritz R. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994;330:529-34 pubmed
    Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13...
  51. Chan A, Liu D. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Br J Dermatol. 2005;153:1072; author reply 1073 pubmed
  52. Toyofuku K, Wada I, Valencia J, Kushimoto T, Ferrans V, Hearing V. 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;15:2149-61 pubmed
    Various types of oculocutaneous albinism (OCA) are associated with reduced pigmentation in the skin, hair, and eyes that results from mutations in genes involved in melanin synthesis...
  53. Chaki M, Mukhopadhyay A, Chatterjee S, Das M, Samanta S, Ray K. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. Mol Vis. 2005;11:531-4 pubmed
    b>Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment and associated with common developmental abnormalities of the eye...
  54. King R, Pietsch J, Fryer J, Savage S, Brott M, Russell Eggitt I, et al. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003;113:502-13 pubmed
    b>Oculocutaneous albinism (OCA) is a common human genetic condition resulting from mutations in at least twelve different genes...
  55. Inagaki K, Suzuki T, Ito S, Suzuki N, Adachi K, Okuyama T, et al. Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res. 2006;19:451-3 pubmed
    b>Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary disorder caused by mutations in the Membrane-Associated Transporter Protein gene (SLC45A2)...
  56. Lee S, Nicholls R, Jong M, Fukai K, Spritz R. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics. 1995;26:354-63 pubmed
    ..Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice...
  57. Grønskov K, Ek J, Brondum Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43 pubmed
    b>Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes...
  58. Izquierdo N, Emanuelli A, Izquierdo J, García M, Cadilla C, Berrocal M. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina. 2007;27:1227-30 pubmed
    To measure foveal thickness and macular volume in patients with oculocutaneous albinism (OCA) using optical coherence tomography (OCT) technology and to evaluate the possible association between albinism type and OCT retinal findings.
  59. Sarangarajan R, Boissy R. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001;14:437-44 pubmed
    ..Mutations in the mouse Tyrp1 gene are associated with brown pelage, and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3)...
  60. Giebel L, Tripathi R, Strunk K, Hanifin J, Jackson C, King R, et al. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet. 1991;48:1159-67 pubmed
    ..different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow") oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA...
  61. Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi Hara M, Tanita M, et al. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). J Dermatol Sci. 2002;28:102-5 pubmed
    ..caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life...
  62. Meyer C, Lapolice D, Freedman S. Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. Am J Ophthalmol. 2002;133:409-10 pubmed
    To document, in vivo, the foveal morphology and thickness in a patient with oculocutaneous albinism.
  63. Fridman C, Hosomi N, Varela M, Souza A, Fukai K, Koiffmann C. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. Am J Med Genet A. 2003;119A:180-3 pubmed
  64. Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, et al. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol. 2010;130:716-24 pubmed publisher
    b>Oculocutaneous albinism (OCA) is a heterogeneous recessive disorder with hypopigmentation in the skin, hair, and eyes. At least 16 genes have been identified as causative genes for human OCA...
  65. Chintamaneni C, Halaban R, Kobayashi Y, Witkop C, Kwon B. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proc Natl Acad Sci U S A. 1991;88:5272-6 pubmed
    ..14.18.1) from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the ..
  66. King R, Willaert R, Schmidt R, Pietsch J, Savage S, Brott M, et al. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003;73:638-45 pubmed
    The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype...