Oculocutaneous Albinism With Autism: a Case Report
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Oculocutaneous Albinism With Autism: a Case Report

Turk J Child Adolesc Ment Health 2013;20(2):109-112
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Abstract

Oculocutaneous albinism (OCA) is an autosomal recessively inherited disease resulting in defective melanin biosyn-thesis, presenting with hypopigmentation in the eyes, skin and hair. Along with skin and hair symptoms, congenital nystagmus, iris hypopigmentation, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity and refractive errors, impairment in coloured vision and photophobia may occur in various degrees as the clinical presentation. Although autism has been associated with disorders that present with hypomelanotic skin lesions, such as tuberous sclerosis and hypomelanosis of ito; data that link OCA and autism is scarce. In this case report, a case of autism diagnosed with OCA will be discussed in the light of literature.

Keywords: Oculocutaneous albinism, autism, hypomelanosis