A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
P-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the P gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the P gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world.
Kawai
Masahiro
M
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Suzuki
Tamio
T
Ito
Shiro
S
Inagaki
Katsuhiko
K
Suzuki
Noriyuki
N
Tomita
Yasushi
Y
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000483:Alleles; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D018570:Risk Assessment; D012720:Severity of Illness Index; D013471:Sunburn / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D026901:Membrane Transport Proteins; C489600:OCA2 protein, human