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Article

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Clinical & experimental ophthalmology - 1 Dec 2017

Vincent Andrea L, Abeysekera Nandoun, van Bysterveldt Katherine A, Oliver Verity F, Ellingford Jamie M, Barton Stephanie, Black Graeme Cm

Abstract excerpt

IMPORTANCE: This study identifies unique genetic variation observed in a cohort of Māori and Polynesian patients with rod-cone retinal dystrophies using a targeted next-generation sequencing retinal disease gene panel. BACKGROUND: With over 250 retinal disease genes identified, genetic diagnosis is still only possible in 60-70% of individuals and even less within unique ethnic groups. DESIGN: Prospective genetic...

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PMID: 28488341
DOI: 10.1111/ceo.12983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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