Literature DB >> 35217926

Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Emily Z Ma1, Albert E Zhou1, Karl M Hoegler1, Amor Khachemoune2,3.   

Abstract

Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as decreased visual acuity and nystagmus. OCA affects people globally but is most prevalent in African countries. Individuals with oculocutaneous albinism lack UV protection and are prone to skin damage and skin cancers. For many African albino individuals, there are significant challenges in seeking treatment for skin cancer and preventing sun damage due to psychosocial factors and poor education. This review summarizes the current understanding of the epidemiology, genetics, and clinical manifestations of OCA. We also discuss the medical and psychosocial challenges that affect individuals with OCA and the current landscape of albinism treatment modalities. The extent of the psychosocial challenges needs to be better understood and additional educational interventions may improve quality of life for people with albinism.
© 2022. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.

Entities:  

Keywords:  OCA; Oculocutaneous albinism; Psychosocial issues; Skin cancer; Skin pigmentation

Year:  2022        PMID: 35217926     DOI: 10.1007/s00403-022-02335-1

Source DB:  PubMed          Journal:  Arch Dermatol Res        ISSN: 0340-3696            Impact factor:   3.017


  40 in total

1.  Albinism among the Hopi Indians in Arizona.

Authors:  C M WOOLF; R B GRANT
Journal:  Am J Hum Genet       Date:  1962-12       Impact factor: 11.025

2.  Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Authors:  R Kerr; G Stevens; P Manga; S Salm; P John; T Haw; M Ramsay
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

3.  Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism.

Authors:  C J Witkop
Journal:  Ala J Med Sci       Date:  1979-10

Review 4.  Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

Authors:  W S Oetting; R A King
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

5.  [Study on genetic epidemiology of albinism].

Authors:  Y Gong; C Shao; H Zheng; B Chen; Y Guo
Journal:  Yi Chuan Xue Bao       Date:  1994

Review 6.  Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.

Authors:  Tamio Suzuki; Yasushi Tomita
Journal:  J Dermatol Sci       Date:  2008-04-14       Impact factor: 4.563

7.  Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Authors:  Katsuhiko Inagaki; Tamio Suzuki; Hiroshi Shimizu; Norihisa Ishii; Yoshinori Umezawa; Joji Tada; Noriaki Kikuchi; Minoru Takata; Kenji Takamori; Mari Kishibe; Michi Tanaka; Yoshinori Miyamura; Shiro Ito; Yasushi Tomita
Journal:  Am J Hum Genet       Date:  2004-02-11       Impact factor: 11.025

8.  Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Authors:  Saunie M Hutton; Richard A Spritz
Journal:  J Invest Dermatol       Date:  2008-05-08       Impact factor: 8.551

9.  Albinism in Africa as a public health issue.

Authors:  Esther S Hong; Hajo Zeeb; Michael H Repacholi
Journal:  BMC Public Health       Date:  2006-08-17       Impact factor: 3.295

Review 10.  Oculocutaneous albinism.

Authors:  Karen Grønskov; Jakob Ek; Karen Brondum-Nielsen
Journal:  Orphanet J Rare Dis       Date:  2007-11-02       Impact factor: 4.123

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