Ocular Albinism Type 1 - Symptoms

Symptoms

OA1 is recognized by many different symptoms. Reduced visual acuity is accompanied by involuntary movements of the eye termed as nystagmus. Astigmatism is a condition wherein there occurs significant refractive error. Moreover, ocular albino eyes become crossed, a condition called as ‘lazy eyes’ or strabismus. Since very little pigment is present the iris becomes translucent and reflects light back. It appears green to brown. However, the most important part of the eye, the fovea which is responsible for acute vision, does not develop properly, probably indicating the role of melanin in the development stages of the eye. Some patients may also develop photophobia/photodysphoria. All these symptoms are due to hypo-pigmentation of the retina. Moreover, in an ocular albino eye, nerves from back of the eye to the brain may not follow usual pattern of routing. In an ocular albino eye, more nerves cross from back of the eye to the opposite side of the brain instead of going to the both sides of the brain as in a normal eye. An ocular albino eye appears orangish pink in color with no pigmentation at all. Carrier women have regions of hypo- and hyper-pigmentation due to X-inactivation and partial iris transillumination and do not show any other symptoms exhibited by patients suffering from OA1.