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Updated: Jul 20, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
[A new form of Oculocutaneous albinism, OCA4]
Hong-Yi Li1, Hong-Lei Duan, Hui Zheng
1Department of Medical Genetics, Zhongshan Medical College, SunYat-sen University, Guangzhou, China.
Abstract:
Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). OCA4 was firstly reported in a Turkish OCA patient. The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the mem-brane-associated transporter protein (MATP). MATP gene is located on chromosome 5p13.3 and is divided into 7 exons and 6 introns. MATP gene is transcriptionally modulated by MITF, and encodes a protein of 530 amino acids. There are at least 18 pathologic mutations and 8 non-pathologic polymorphisms have been found.
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