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
Related Articles
- EP ID EP380039
- DOI -
- Views 76
- Downloads 0
Cyclop deformity born to an eclamptic mother: a case report and literature review
Abstract: Cyclopia is a rare congenital craniofacial abnormality considered the severest form of alobar holoprosencephaly. It is aetiopathogenically heterogeneous and incompatible with life. We report the case of a pheno...
Multiple Aneurysms in Behcet’s Disease, Revealed by a Pulsatile Crural Mass
Aneurysm or pseudoaneurysm is the main vascular complication of Behcet’s disease. Nowadays we have both open and endovascular treatment. We report a case of Behcet’s disease femoral artery false aneurysm combined with a...
Granulomatous mastitis masquerading as breast carcinoma
Granulomatous mastitis is a rare inflammatory disease of the breast with no known etiology. It presents most commonly with a palpable mass and erythematous skin. Often, the initial diagnosis offered clinically is breast...
Thyroid Malignancy presenting as Skull Metastases –A Rare Presentation
Thyroid carcinoma comprises 1% of all malignancies. Follicular thyroid carcinoma 9 (FTC) is the second most common malignancy of the thyroid. Vascular invasion and hematogenous metastases to bone ,lungs...
Strangulated Diaphragmatic Hernia-A Rare Cause of Acute Intestinal Obstruction in Adults
Abstract:Diaphragmatic hernia in the absence of trauma is very rare in adults. The literature describes less than a dozen such cases of right-sided diaphragmatic hernia .We present a rare case of spontaneous right side d...