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Oculocutaneous albinism type 8(OCA8)

MedGen UID:
1754121
•Concept ID:
C5436929
•
Disease or Syndrome
Synonym: OCULOCUTANEOUS ALBINISM, TYPE VIII
 
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]

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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Hypopigmentation of hair
MedGen UID:
480031
•Concept ID:
C3278401
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Foveal hypoplasia
MedGen UID:
393047
•Concept ID:
C2673946
•
Finding
Underdevelopment of the fovea centralis.
See: Feature record | Search on this feature
Chorioretinal hypopigmentation
MedGen UID:
868092
•Concept ID:
C4022483
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
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
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
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

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.
Santos Malave G, Izquierdo NJ, Sanchez NP
Orphanet J Rare Dis 2022 Jul 30;17(1):305. doi: 10.1186/s13023-022-02464-w. PMID: 35907869Free PMC Article
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
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
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
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
Dermatological and Epidemiological Profiles of Patients with Albinism in São Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study.
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
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
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

Hermansky-Pudlak Syndrome: Spectrum in Oman.
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
Abnormal foveal morphology in carriers of oculocutaneous albinism.
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
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
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
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
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
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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

Therapy

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report.
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
The management of gastrointestinal disease in Hermansky-Pudlak syndrome.
Mora AJ, Wolfsohn DM
J Clin Gastroenterol 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742. PMID: 21085008
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
King RA, Mentink MM, Oetting WS
Mol Biol Med 1991 Feb;8(1):19-29. PMID: 1943686

Prognosis

Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets.
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
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
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
Dermatological and Epidemiological Profiles of Patients with Albinism in São Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study.
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
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.
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

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
Wang Y, Chang Y, Gao M, Zang W, Liu X
Hereditas 2024 Feb 6;161(1):8. doi: 10.1186/s41065-024-00312-4. PMID: 38317267Free PMC Article
Abnormal foveal morphology in carriers of oculocutaneous albinism.
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
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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
Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.
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
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
Witkop CJ, Nuñez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA
Bol Asoc Med P R 1990 Aug;82(8):333-9. PMID: 2261023

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