U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Oculocutaneous albinism

MedGen UID:
36250
Concept ID:
C0078918
Congenital Abnormality
Synonyms: Albinism, Oculocutaneous; Oculocutaneous Albinism
SNOMED CT: Oculocutaneous albinism (63844009); Complete perfect albinism (63844009); Albinismus totalis (63844009); Albinismus universalis (63844009); Total albinism (63844009); Complete universal albinism (63844009); OCA - Oculocutaneous albinism (63844009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: LRMDA, SLC45A2, WDR45, TYRP1, TYR, OCA2, MC1R
 
Monarch Initiative: MONDO:0018910
OMIM® Phenotypic series: PS203100
Orphanet: ORPHA55

Definition

Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.

Oculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. 

Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).

There are several additional, rare types of oculocutaneous albinism. [from MedlinePlus Genetics]

Term Hierarchy

Professional guidelines

PubMed

Marçon CR, Maia M
An Bras Dermatol 2019 Sep-Oct;94(5):503-520. Epub 2019 Sep 30 doi: 10.1016/j.abd.2019.09.023. PMID: 31777350Free PMC Article
White D, Rabago-Smith M
J Hum Genet 2011 Jan;56(1):5-7. Epub 2010 Oct 14 doi: 10.1038/jhg.2010.126. PMID: 20944644
Shimizu H, Suzumori K
J Dermatol Sci 1999 Jan;19(1):1-8. doi: 10.1016/s0923-1811(98)00045-0. PMID: 9890368

Suggested Reading

Recent clinical studies

Etiology

Ma EZ, Zhou AE, Hoegler KM, Khachemoune A
Arch Dermatol Res 2023 Mar;315(2):107-116. Epub 2022 Feb 25 doi: 10.1007/s00403-022-02335-1. PMID: 35217926
Liu S, Kuht HJ, Moon EH, Maconachie GDE, Thomas MG
Surv Ophthalmol 2021 Mar-Apr;66(2):362-377. Epub 2020 Oct 29 doi: 10.1016/j.survophthal.2020.10.007. PMID: 33129801
Marçon CR, Maia M
An Bras Dermatol 2019 Sep-Oct;94(5):503-520. Epub 2019 Sep 30 doi: 10.1016/j.abd.2019.09.023. PMID: 31777350Free PMC Article
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article
Kinnear PE, Jay B, Witkop CJ Jr
Surv Ophthalmol 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3. PMID: 3934778

Diagnosis

Talbert ML, Malicdan MCV, Introne WJ
Curr Opin Hematol 2023 Jul 1;30(4):144-151. Epub 2023 Apr 25 doi: 10.1097/MOH.0000000000000766. PMID: 37254856Free PMC Article
Bezerra Castaldelli G, Bezerra Castaldelli AJ, Anderson Castaldelli V
JAMA Ophthalmol 2021 Dec 1;139(12):e214068. Epub 2021 Dec 15 doi: 10.1001/jamaophthalmol.2021.4068. PMID: 34910112
De Jesus Rojas W, Young LR
Semin Respir Crit Care Med 2020 Apr;41(2):238-246. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708088. PMID: 32279294
Spoor J, Farajifard H, Rezaei N
Crit Rev Oncol Hematol 2019 Jan;133:149-162. Epub 2018 Oct 13 doi: 10.1016/j.critrevonc.2018.10.003. PMID: 30661651
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Therapy

Marçon CR, Maia M
An Bras Dermatol 2019 Sep-Oct;94(5):503-520. Epub 2019 Sep 30 doi: 10.1016/j.abd.2019.09.023. PMID: 31777350Free PMC Article
Teramae A, Kobayashi Y, Kunimoto H, Nakajima K, Suzuki T, Tsuruta D, Fukai K
J Invest Dermatol 2019 May;139(5):1143-1149. Epub 2018 Nov 14 doi: 10.1016/j.jid.2018.10.033. PMID: 30447237
Rosa J, Suzuki I, Kravicz M, Caron A, Pupo AV, Praça FG, Bentley MVLB
Curr Pharm Des 2018;24(23):2644-2663. doi: 10.2174/1381612824666180807120017. PMID: 30084329
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J
Ann Am Thorac Soc 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. PMID: 27529121Free PMC Article
David CV
Cutis 2013 May;91(5):E1-4. PMID: 23772437

Prognosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Wang FB
Strabismus 2020 Mar;28(1):17-19. Epub 2019 Sep 30 doi: 10.1080/09273972.2019.1668028. PMID: 31566469
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR
Hum Mutat 2013 Jun;34(6):827-35. Epub 2013 Apr 30 doi: 10.1002/humu.22315. PMID: 23504663Free PMC Article
Kirkwood BJ
Insight 2009 Apr-Jun;34(2):13-6. PMID: 19534229
Sethi R, Schwartz RA, Janniger CK
Cutis 1996 Jun;57(6):397-401. PMID: 8804841

Clinical prediction guides

Galli J, Loi E, Dusi L, Pasini N, Rossi A, Scaglioni V, Mauri L, Fazzi E
Eur J Pediatr 2023 Jun;182(6):2723-2733. Epub 2023 Apr 3 doi: 10.1007/s00431-023-04938-w. PMID: 37009951Free PMC Article
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR
Hum Mutat 2013 Jun;34(6):827-35. Epub 2013 Apr 30 doi: 10.1002/humu.22315. PMID: 23504663Free PMC Article
Hutton SM, Spritz RA
J Invest Dermatol 2008 Oct;128(10):2442-50. Epub 2008 May 8 doi: 10.1038/jid.2008.109. PMID: 18463683Free PMC Article
Moss C
Semin Neonatol 2000 Nov;5(4):311-20. doi: 10.1053/siny.2000.0020. PMID: 11032715
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS
FASEB J 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. PMID: 10877819

Recent systematic reviews

Kromberg JGR, Flynn KA, Kerr RA
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):14. doi: 10.1167/iovs.64.10.14. PMID: 37440261Free PMC Article
de Arruda JAA, Sousa-Neto SS, Abreu LG, Schuch LF, Souza VG, Alves TVL, Martins-Andrade B, Shetty SS, Monteiro JLGC, Mendonça EF, Mesquita RA, Callou G
Dis Mon 2023 Jan;69(1):101356. Epub 2022 Apr 10 doi: 10.1016/j.disamonth.2022.101356. PMID: 35414415
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R
Int J Gynaecol Obstet 2021 Sep;154(3):412-426. Epub 2021 Mar 9 doi: 10.1002/ijgo.13632. PMID: 33521972

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...