%0 Journal Article
%T An overview of oculocutaneous albinism: report of TYR gene mutations in five Colombian individuals Una mirada al albinismo oculocut芍neo: reporte de mutaciones en el gen TYR en cinco individuos colombianos
%A Diana Sanabria
%A Helena Groot
%A Julio Guzm芍n
%A Mar赤a Claudia Lattig
%J Biom谷dica
%D 2011
%I Instituto Nacional de Salud
%X Introduction. Oculocutaneus albinism is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, foveal hypoplasia and low vision. To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis. Objectives. Identify mutations in the TYR gene responsible for oculocutaneous albinism type 1 in five Colombian individuals; four of them belong to a single family and the fifth one is an isolated case not related to the family. Test a newfangled ophthalmic system to correct refraction defects, decrease nystagmus movements and photophobia in a patient with oculocutaneous albinism in one of the patients. Materials and methods. Sequencing of the five exons in the TYR gene and search for possible carriers in the family. Clinical ophthalmological evaluation and implementation of an oculo-visual system. Results. We identified the G47D and 1379delTT mutation in the family, the isolated case was a compound heterozygote for the G47D and D42N mutations. The oculo-visual corrective system was able to increase visual acuity and to diminish the nystagmus. Conclusions. This is the first study in Colombia where albinism mutations are reported enabling future molecular screening studies in our Colombian population. Introducci車n. El albinismo oculocut芍neo es un desorden hereditario autos車mico recesivo relacionado con la pigmentaci車n. Sus manifestaciones cl赤nicas incluyen hipopigmentaci車n en piel, cabello y ojos, hipoplasia en la f車vea y baja visi車n. A nivel mundial, hasta el momento, han sido reportadas aproximadamente 230 mutaciones en el gen TYR que causan albinismo oculocut芍neo tipo 1. Este gen codifica para la tirosinasa, enzima principal de la bios赤ntesis de melanina. Objetivos. Identificar mutaciones en el gen TYR responsables del albinismo oculocut芍neo tipo 1 en cinco individuos colombianos; cuatro de ellos pertenecen a una misma familia y el otro individuo es un caso aislado no relacionado con la familia. Asimismo, se pretende evaluar un sistema oft芍lmico que permite corregir problemas de refracci車n, disminuir el nystagmus y la fotofobia en uno de los casos. Materiales y m谷todos. Secuenciaci車n de los cinco exones del gen TYR en los cinco individuos de estudio y b迆squeda de portadores en la familia. Evaluaci車n cl赤nica oftalmol車gica e implementaci車n del sistema correctivo. Resultados. Se encontraron las mutaciones G47D y 1379 del TT en la familia; en el individuo aislado se encontr車 q
%U http://www.revistabiomedica.org/index.php/biomedica/article/view/638