Atypical Variant of Oculocutaneous Albinism Associated with Deafness and Mental Retardation: A Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2017, Vol 5, Issue 4
Abstract
Abstract: Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence oculocutaneous albinism varies considerably worldwide and has been estimated to be about 1/17,000. Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Usually affected patients have normal lifespan, neurological development, intelligence and fertility. Treatment is usually by correction of refractive errors with spectacles; strabismus surgery can be considered. Hats with brims and dark glasses. Protection from sun exposure with appropriate skin-covering clothing and sunscreens prevent the risk of skin cancer. . Differential diagnosis includes Mental Retardation, Chediak-Higashi syndrome. Full Gene Sequencing panel of tests to identify the genes involved can be done to identify the mutation. Disadvantage is its cost. Diagnosis is by clinical evaluation. Correction of refractive errors, protection from sun exposure, educating the parents about the care of the patient, will have better prognosis. Keywords: Oculocutaneous albinism, Atypical Variant, Mental Retardation, Mental Retardation, Chediak-Higashi syndrome
Authors and Affiliations
Dr. Deepak R. Chinagi Chinagi, Dr. L. S. Patil, Dr. Timanna Giraddi, Dr. Prasad Ugargol
Keywords
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