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.

Genetics

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.

Treatment

Treatment Options:

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

References

Article Title:

Increasing the complexity: new genes and new types of albinism [1]

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:

24066960

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24 [2]

Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet. 2013 Jul;84(1):91-3.

PubMed ID:

23050561