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Image Number 539 (Oculocutaneous Albinism)


Diagnosis: Oculocutaneous Albinism

Site: All Sites

Sex: F

Age: 31

Type: Clinical

Description: Generallized whitening of the skin since birth along with Photophobia and nystagmus

Submitted by: Irfan Bari

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Differential Diagnosis

History: Oculocutaneous albinism (OCA) presents with a congenital reduction or absence of melanin pigment in the skin, hair and eyes. The reduction in the hair and skin results in a change in color but no change in the development or function of these tissues, while the absence of melanin pigment in the eye leads to abnormal development and function. The lack of pigment in the skin observed with OCA results in a predisposition to skin cancer as well as the psychological and social problems that result from hypopigmentation. This is particularly pronounced in those who would otherwise have dark pigmentation. The changes to the optic system associated with hypopigmentation include a reduction in visual acuity resulting from foveal hypoplasia, and misrouting of the optic nerves at the chiasma. The optic system changes are common to all types of albinism and are thought to be a result of the reduction of pigmentation, rather than a pleiotropic effect of the different genes or specific mutant alleles involved

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