Albinism, Oculocutaneous, Type VI

Clinical Characteristics
Ocular Features: 

Nystagmus is usually present from birth and visual acuity is in the range of 20/100.  There is marked hypopigmentation in the retina and the iris often transilluminates.  OCT usually shows foveal flattening consistent with hypoplasia.  Most patients experience severe photophobia and many have strabismus.

Systemic Features: 

There is usually complete loss or a severe reduction of melanin in skin, hair, and eyes.  Hair color is blond but may become tinged with brown in older individuals.  The skin may have pigmented nevi and has a tendency to tan in some patients.


This is an autosomal recessive disorder resulting from mutations in SLC24A5 (15q21.1).

Autosomal recessive
Treatment Options: 

No effective treatment is available.  Visual function can be improved with low vision aids.

Article Title: 

SLC24A5 Mutations are Associated with Non-Syndromic Oculocutaneous Albinism

Morice-Picard F, Lasseaux E, Fran?ssois S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. SLC24A5 Mutations are Associated with Non-Syndromic Oculocutaneous Albinism. J Invest Dermatol. 2013 Aug 28. [Epub ahead of print] PubMed PMID: 23985994.

PubMed ID: 
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