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Oculocutaneous albinism type 8(OCA8)

MedGen UID:
1754121
Concept ID:
C5436929
Disease or Syndrome
Synonym: OCULOCUTANEOUS ALBINISM, TYPE VIII
SNOMED CT: Oculocutaneous albinism type 8 (1300116006); OCA8 - oculocutaneous albinism type 8 (1300116006)
 
Gene (location): DCT (13q32.1)
 
Monarch Initiative: MONDO:0030899
OMIM®: 619165
Orphanet: ORPHA597733

Definition

Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina (Pennamen et al., 2021). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/oculocutaneous-albinism

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Iris transillumination defect
MedGen UID:
786045
Concept ID:
C1096099
Anatomical Abnormality
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
Foveal hypoplasia
MedGen UID:
393047
Concept ID:
C2673946
Finding
Underdevelopment of the fovea centralis.
Chorioretinal hypopigmentation
MedGen UID:
868092
Concept ID:
C4022483
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculocutaneous albinism type 8

Professional guidelines

PubMed

Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL
J Invest Dermatol 2006 Jan;126(1):85-90. doi: 10.1038/sj.jid.5700034. PMID: 16417222Free PMC Article

Recent clinical studies

Etiology

Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
Marçon CR, Moraes JC, de Olivas Ferreira MAM, Oliari CB
Dermatology 2020;236(3):219-227. Epub 2019 Aug 28 doi: 10.1159/000502034. PMID: 31461704
Patiroglu T, Akar HH, Unal E, Chiang SC, Schlums H, Tesi B, Ozkars MY, Karakukcu M
Genet Couns 2016;27(1):67-76. PMID: 27192893
Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL
J Invest Dermatol 2006 Jan;126(1):85-90. doi: 10.1038/sj.jid.5700034. PMID: 16417222Free PMC Article

Diagnosis

Nazir HF, Al Sukaiti N, Khater D, Elbeshlawy I, Hassanein N
J Pediatr Hematol Oncol 2023 Apr 1;45(3):e389-e394. Epub 2022 Sep 21 doi: 10.1097/MPH.0000000000002552. PMID: 36162005
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR
Orphanet J Rare Dis 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PMID: 30791930Free PMC Article
Brandt A, Offner F, Quatacker J, Phillipe J, Meire F
Bull Soc Belge Ophtalmol 1997;267:99-105. PMID: 9745819

Therapy

Girot P, Le Berre C, De Maissin A, Freyssinet M, Trang-Poisson C, Bourreille A
World J Gastroenterol 2019 Feb 28;25(8):1031-1036. doi: 10.3748/wjg.v25.i8.1031. PMID: 30833808Free PMC Article
Mora AJ, Wolfsohn DM
J Clin Gastroenterol 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742. PMID: 21085008
King RA, Mentink MM, Oetting WS
Mol Biol Med 1991 Feb;8(1):19-29. PMID: 1943686

Prognosis

Bai M, Ke S, Yu H, Xu Y, Yu Y, Lu S, Wang C, Huang J, Ma Y, Dai W, Wu Y
Front Immunol 2022;13:964891. Epub 2022 Aug 17 doi: 10.3389/fimmu.2022.964891. PMID: 36059514Free PMC Article
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Marçon CR, Moraes JC, de Olivas Ferreira MAM, Oliari CB
Dermatology 2020;236(3):219-227. Epub 2019 Aug 28 doi: 10.1159/000502034. PMID: 31461704
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR
Orphanet J Rare Dis 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PMID: 30791930Free PMC Article
Patiroglu T, Akar HH, Unal E, Chiang SC, Schlums H, Tesi B, Ozkars MY, Karakukcu M
Genet Couns 2016;27(1):67-76. PMID: 27192893

Clinical prediction guides

Kuht HJ, Thomas MG, McLean RJ, Sheth V, Proudlock FA, Gottlob I
Br J Ophthalmol 2023 Aug;107(8):1202-1208. Epub 2022 Apr 4 doi: 10.1136/bjophthalmol-2020-318192. PMID: 35379600Free PMC Article
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR
Orphanet J Rare Dis 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PMID: 30791930Free PMC Article
Rivera-Concepción J, Acevedo-Canabal J, Burés A, Vargas G, Cadilla C, Izquierdo NJ
Eur J Haematol 2019 May;102(5):432-436. Epub 2019 Mar 6 doi: 10.1111/ejh.13210. PMID: 30659653Free PMC Article
Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King RA, Brilliant MH
Hum Mutat 1998;12(6):434. doi: 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7. PMID: 10671067
Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, Phillips JI, Jenkins T
Ophthalmic Paediatr Genet 1990 Sep;11(3):229-35. doi: 10.3109/13816819009020984. PMID: 2126368

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