Oral communication, iL49

Official XXIst International Pigment Cell Conference website - 21-24 Sept 2011, Bordeaux - France | updated: September 04 2011

What's new in albinism among Japanese 2011

SPEAKER T. Suzuki #whois submiter ?
AUTHOR(s) T. Suzuki

Patients with oculocutaneous albinism (OCA) are characterized by reduced skin and hair pigmentation, and by reduced visual acuity and nystagmus. OCA can be classified into two groups. One is the non-syndromic type, which is usually classified into four resposible genes. Another type is the syndromic type, which reveals not only OCA but also other symptoms, e.g. bleeding tendency, immunodeficiency. The product of the responsible gene for the syndromic type works at the physiological level in the synthesis and trafficking of lysosome-related organelles. Thus, mutations only in one gene cause apparent unrelated multi-symptoms. Here, we summarize the characteristics of OCA found in Japanese population, and reveal some topics found in our study, including a patient recently diagnosed as OCA3 which is very rare in non-African populations.



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Université de Bordeaux 2 & Conseil Régional Aquitaine