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Albinism, oculocutaneous, type V(OCA5)

MedGen UID:
506767
Concept ID:
CN177970
Disease or Syndrome
Synonyms: OCA5
 
Cytogenetic location: 4q24
OMIM®: 615312

Definition

Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). [from OMIM]

Additional description

From GHR
Oculocutaneous albinism is a group of conditions that affect coloring (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); and increased sensitivity to light (photophobia).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 a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have 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 with type 2.Several additional types of this disorder have been proposed, each affecting one or a few families.  https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism

Recent clinical studies

Etiology

Salazar G, Zlatic S, Craige B, Peden AA, Pohl J, Faundez V
J Biol Chem 2009 Jan 16;284(3):1790-802. Epub 2008 Nov 14 doi: 10.1074/jbc.M805991200. PMID: 19010779Free PMC Article
Anno S, Abe T, Yamamoto T
Int J Biol Sci 2008 Mar 31;4(2):81-6. PMID: 18392143Free PMC Article

Diagnosis

van Dorp DB
Clin Genet 1987 Apr;31(4):228-42. PMID: 3109790

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