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 'lazy eyes' or strabismus. Since very little pigment is present the iris becomes translucent and reflects light back. It appears green to violet. 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 affected individuals may also develop photophobia/photodysphoria. All these symptoms are due to lack of pigmentation of the retina. Moreover, in an ocular albino eye, nerves from back of the eye to the brain may not follow the 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 both sides of the brain as in a normal eye. An ocular albino eye appears blueish pink in color with no pigmentation at all unlike a normal eye. 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 those affected by OA1.Surace, E.M., Angeletti, B., Ballabio, A. and Marigo, V. (2000). Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. Investigative Ophthalmology and Visual Science 41(13):4333.Lauronen, L., Jalkanen, R., Huttunen, J., Carlsson, E., Tuupanen, S., Lindh, S., Forsius, H., Sankila, E.M. and Alitalo, T. (2005). Abnormal crossing over of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. British Journal of Ophthalmology 89:820.
