Albinism, Oculocutaneous, Type V

Clinical Characteristics
Ocular Features: 

The phenotype in the two families studied includes photophobia, nystagmus, foveal hypoplasia and decreased visual acuity.  The fundus is hypopigmented.

Systemic Features: 

The hair is golden-colored and the skin is described as white. 


The specific gene causing this form of oculocutaneous albinism has not been identified.  However, an area of homozygosity in the region of 4q24 has been identified in 6 members in two families belonging to a large consanguineous Pakistani pedigree in which it segregates with the OCA5 phenotype. 

Autosomal recessive
Treatment Options: 

No treatment is available for oculocutaneous albinism but appropriately tinted glasses could be beneficial.

Article Title: 

Increasing the complexity: new genes and new types of albinism

Montoliu L, Gronskov K, Wei AH, Martinez-Garcia M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-18. Review.

PubMed ID: 
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