title: [An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Laboratorio de Genética Humana, Facultad de Ciencias, Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, DC, Colombia.
authors.forename: Diana
authors.initials: D
authors.lastname: Sanabria
authors.forename: Helena
authors.initials: H
authors.lastname: Groot
authors.forename: Julio
authors.initials: J
authors.lastname: Guzmán
authors.forename: María Claudia
authors.initials: MC
authors.lastname: Lattig
mesh_terms: D016115:Albinism, Oculocutaneous / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D001251:Astigmatism / Q000150:complications / Q000601:surgery / Q000628:therapy; D002648:Child; D003105:Colombia / Q000453:epidemiology; D003261:Contact Lenses; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D049008:Keratectomy, Subepithelial, Laser-Assisted; D008297:Male; D008875:Middle Aged; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D020125:Mutation, Missense; D009759:Nystagmus, Pathologic / Q000150:complications / Q000628:therapy; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D014442:Monophenol Monooxygenase