Autosomal recessive ocular albinism

Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic… Expand

PURPOSE The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in… Expand

Oculocutaneous albinism (OCA) types 1, 2, 3, and 4 (OMIM 203100, 203200, 203290, 611409) are characterized as hypopigmentation of… Expand

PURPOSE Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is… Expand

Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007]. The spectrum… Expand

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf… Expand

Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris… Expand

 

UNLABELLED After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were… Expand