Albinism is a genetic condition in which there is a defect of melanin synthesis in the skin cells. Melanin synthesis is done by melanocyte cells. Melanin cells are dendritic in nature and structure and these distribute the melanin to the whole skin. The usual ratio for melanocyte to keratinocyte in the distribution of function is 1: 36. If by any cause the melanocyte cells are unable to make the dark-colored pigment known as melanin then the resulting cells are not colored but remain colorless or white.
Is Ocular Albinism A Disability?
If there is no functional defect in the eye and there is only the physical or color defect then ocular albinism is not a disability. Because it is responsible for only a difference in the color of iris and nothing else and it should not be considered a disability for the person. Discrimination should not be done on the basis of it because it is purely genetically based phenomena not affected by environmental factors or other things. Albinism is commonly found in various colder areas like Western countries especially the US where it is a normal color that may also have an additional feature of ocular albinism which does not hinder their life in any form.
Albinism is broadly classified into two types depending upon the site of involvement of the body areas: oculocutaneous and ocular albinism. In oculocutaneous albinism, there is the involvement of eye as well as skin both whereas in ocular albinism there is the involvement of only eye and no or minimal involvement of the skin. There is an enzyme known as tyrosinase which is responsible for conversion of tyrosine into dopa which further gets converted by repeated hydroxylation into melanin which ultimately gives color to the skin, hair and eyes. This enzyme is coded by a gene located on chromosome number 11. If there is a mutation or genetic defect in the coding of this gene or the translation into the enzymatic protein then there will be loss of tyrosine enzyme from the melanocyte cells. It will lead to non-formation or abnormal formation of the melanin pigment and hence the defect is known as albinism.
In ocular albinism, the defect can be non-formation of melanin pigment in the iris of the individual or in the retinal pigmented epithelium or it can be abnormal distribution of melanin in the various structures of eye like retina, optic disc, lens etc. where it can lead to defects in visual acuity, photophobia, monocular diplopia, squint, nystagmus. Due to changes in color or colorlessness of iris, it may create transillumination defects in the eye leading to diplopia. It can lead to significant changes in the eye and various diseases can be related to it, which functionally limits the working of the eye. Melanin or its precursor known as dopa is also known to be an antimitotic agent that helps in stopping the proliferation of blood vessels in the retina after the maturation so as to prevent the proliferative retinopathy but it can restart if there is the absence of dopa in the body.
Ocular albinism is the phenomenon characterized by the loss of color of the iris. It can also occur singularly but may be associated sometimes with few of the syndromes like hermansky pudlak syndrome. The defect associated with ocular albinism is that of loss of the melanin-producing enzyme known as tyrosinase which is solely responsible for its production in all the tissues and there is no substitute enzyme for it. It can manifest with a variety of symptoms ranging from minor defects in visual acuity to major defects of blindness. If there is no functional disability associated with ocular albinism then it should not be considered as a form of disability because there is no otherwise limitation in the working of the eye. One must not treat it as a disease or a factor for discrimination among the people.
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