Inherited Ocular Disease in the New Zealand Māori: Novel Genetic Mechanisms and Founder Effects

Abstract

New Zealand is a small island nation at the bottom of the South Pacific, with a population of 4.7 million, and the largest Polynesian population in the world. 15% identify as Māori and 7% as Pacific peoples, and the spectrum of inherited eye disease encountered in this population varies from that seen in those identifying as NZ European. Keratoconus is more common, while primary open-angle glaucoma is rare. A number of founder pathogenic variants have been elucidated in autosomal recessive ectopia lentis, and a common PDE6B variant caused up to 16% of autosomal recessive inherited retinal disease in the Māori population. Although many of those with inherited retinal disease remain genetically uncharacterised, research to date shows a range of novel variants in many genes. Understanding the population-specific genetic disease spectrum and clinical phenotypes, as well as a knowledge of regional ancestry and iwi (tribe), aids in simplifying the diagnostic process.