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: 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.
MATERIALS AND METHODS: 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.
RESULTS: A G47D and 1379delTT mutation was identified in the family. The 
unrelated individual carried 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 and photophobia.
CONCLUSIONS: This is the first study in Colombia where albinism mutations are 
reported. The methods developed will enable future molecular screening studies 
in Colombian populations.