Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase 
gene, which lead to partial or complete loss of activity of the corresponding 
enzyme. A large number of mutations have been identified worldwide, providing 
insight into the pathogenesis of the disorder. We performed ophthalmic and 
dermatological exams on 30 Lebanese subjects with oculocutaneous albinism, then 
screened for mutations in the tyrosinase gene in an effort to establish the 
molecular basis of the disorder in our population and correlate it with 
phenotypic findings. The five exons of the gene together with the exon-intron 
boundaries and part of the promoter region were sequenced. Mutations were found 
in a total of 14 patients (47%) while no mutation was identified in the 
sequenced regions in 53% of patients. Fourteen different mutations were 
identified of which eight were novel while six had been previously reported. 
Mutations were mainly seen in patients with clinical findings, suggestive of 
OCA1A (64% of patients with OCA1A versus 25% of patients with OCA1B); therefore, 
the absence of mutations in some of the other patients may indicate the 
involvement of other genes.