[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].

[oculocutaneous albinism]

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 .Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals , and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism .Samples were taken from 5 individuals , four of whom belong to a single family , along with a fifth individual not related to the family . Five exons in the TYR gene were sequenced to search for the gene carriers in the family and in the non-related individual . In addition , clinical ophthalmological evaluation and implementation of an new oculo-visual system was undertaken .A G 47 D and 1379 delTT mutation was identified in the family . The unrelated individual carried a compound heterozygote for the G 47 D and D 42 N mutations . The oculo-visual corrective system was able to increase visual acuity and to diminish the nystagmus and photophobia .This is the first study in Colombia where albinism mutations are reported . The methods developed will enable future molecular screening studies in Colombian populations .