BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary 
pigmentation disorder affecting humans and several other animal species. 
Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the 
clinical presentation and genetic basis of albinism in this species.
RESULTS: Clinical examinations and pedigree analysis were performed in an 
affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. 
The main clinical findings were photophobia and a lack of pigmentation of the 
hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis 
suggest that this disease is acquired through recessive inheritance. In the OCA 
buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), 
which leads to the conversion of tryptophan into a stop codon at residue 477.
CONCLUSION: This premature stop codon produces an inactive protein, which is 
responsible for the OCA buffalo phenotype. These findings will be useful for 
future studies of albinism in buffalo and as a possible model to study diseases 
caused by a premature stop codon.