Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized 
by either complete lack of or a reduction in melanin biosynthesis in the skin, 
hair, and eyes. OCA1, the most common and severe type, is caused by mutations in 
the tyrosinase (TYR) gene. In this study, we report a Chinese family with two 
members affected by OCA. Blood samples were collected from all family members. 
Genomic DNA was isolated from blood leukocytes, and all coding exons and 
adjacent intronic sequences of the TYR gene were examined for mutation analysis 
using polymerase chain reaction (PCR)-based sequencing. A pedigree chart was 
drawn, and clinical examinations and paraclinical tests were performed. Compound 
heterozygous mutations in TYR (c.832C>T and c.929_930insC, which resulted in 
p.Arg278* and p.Arg311Lysfs*7, respectively) were identified in the two patients 
with milky skin, white hair, photophobia, and reduced visual acuity, while other 
family members only carried one of two heterozygous mutations. In addition, a 
homozygous missense mutation c.814G>A (p.Glu272Lys) in the solute carrier family 
45 member 2 (SLC45A2) gene was found in both patients and unaffected family 
members, suggesting that this may not be a causative mutation. The findings of 
this study expand the mutational spectrum of OCA. Compound heterozygous 
mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for 
partial clinical manifestations of OCA, while the homozygous missense mutation 
c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.