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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]

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
Zhang YZ, Bai DY, Qi Z, Zhao SZ, Yang XM, Li W, Wei AH
Chin Med J (Engl) 2019 Aug 20;132(16):2011-2012. doi: 10.1097/CM9.0000000000000356. PMID: 31356463Free PMC Article
Grønskov K, Brøndum-Nielsen K, Lorenz B, Preising MN
Eur J Hum Genet 2014 Aug;22(8) Epub 2014 Feb 12 doi: 10.1038/ejhg.2013.307. PMID: 24518832Free PMC Article

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
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

Diagnosis

Ye H, Mao K, Zhao P
Asia Pac J Ophthalmol (Phila) 2023 Mar-Apr 01;12(2):268. Epub 2022 Aug 18 doi: 10.1097/APO.0000000000000506. PMID: 35342184
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
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
Biswas S, Lloyd IC
Arch Dis Child 1999 Jun;80(6):565-9. doi: 10.1136/adc.80.6.565. PMID: 10332009Free PMC Article
Sethi R, Schwartz RA, Janniger CK
Cutis 1996 Jun;57(6):397-401. PMID: 8804841

Therapy

Wattanapisit S, Wattanapisit A, Laksanapiya P, Petmali P
BMJ Support Palliat Care 2023 Dec 7;13(e2):e294-e296. doi: 10.1136/bmjspcare-2020-002862. PMID: 33602721
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
David CV
Cutis 2013 May;91(5):E1-4. PMID: 23772437
Huang XY, Wang Y, Wang R, He GG, Gabrielian A, MacCumber MW
Retina 2012 Feb;32(2):399-402. doi: 10.1097/IAE.0b013e3182252aea. PMID: 21836530
Mohan P, Ramakrishnan MK, Revathy S, Jayanthi V
Dig Liver Dis 2011 Jan;43(1):e1. Epub 2009 Oct 14 doi: 10.1016/j.dld.2009.09.006. PMID: 19833565

Prognosis

Shakil M, Harlalka GV, Ali S, Lin S, D'Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, Baple EL, Crosby AH, Mahmood S
Eye (Lond) 2019 Aug;33(8):1339-1346. Epub 2019 Apr 17 doi: 10.1038/s41433-019-0436-9. PMID: 30996339Free PMC Article
Grønskov K, Brøndum-Nielsen K, Lorenz B, Preising MN
Eur J Hum Genet 2014 Aug;22(8) Epub 2014 Feb 12 doi: 10.1038/ejhg.2013.307. PMID: 24518832Free 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
Parker MS, Rosado Shipley W, de Christenson ML, Slutzker AD, Carroll FE, Worrell JA, White JG
Ann Diagn Pathol 1997 Dec;1(2):99-103. doi: 10.1016/s1092-9134(97)80014-7. PMID: 9869831
Sethi R, Schwartz RA, Janniger CK
Cutis 1996 Jun;57(6):397-401. PMID: 8804841

Clinical prediction guides

Wattanapisit S, Wattanapisit A, Laksanapiya P, Petmali P
BMJ Support Palliat Care 2023 Dec 7;13(e2):e294-e296. doi: 10.1136/bmjspcare-2020-002862. PMID: 33602721
Shakil M, Harlalka GV, Ali S, Lin S, D'Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, Baple EL, Crosby AH, Mahmood S
Eye (Lond) 2019 Aug;33(8):1339-1346. Epub 2019 Apr 17 doi: 10.1038/s41433-019-0436-9. PMID: 30996339Free 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
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

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