Genetic findings of inherited retinal diseases in Aōtearoa/New Zealand

Abstract

Aōtearoa/New Zealand is a small island nation at the bottom of the South Pacific, with a population of 5 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 founder PDE6B variant has been identified causing up to 16% of autosomal recessive inherited retinal disease (IRD) in the Māori population. This genetically homogenous cohort permits a clear natural history for PDE6B IRD. Recurrent pathogenic variants, some novel, are also found in other IRD genes including SNRNP200 and PRPH2. Although many of those with inherited retinal disease remain genetically uncharacterised, research to date shows a range of novel variants in a many genes, but also allows exclusion of other variants of uncertain significance, due to their frequency in this cohort. There is a need for genetics researchers to have a cultural awareness of the population, and acknowledge the socioeconomic and health disparities which result in late presentation. Documentation of the specific genetic disease spectrum, clinical phenotypes, and a knowledge of regional ancestry and iwi (tribe), aids in simplifying the diagnostic process.