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Article

Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.

Ophthalmic genetics - 1 Feb 2020

Lin Yuchen, Xu Christine L, Breazzano Mark P, Tanaka Akemi J, Ryu Joseph, Levi Sarah R, Yao Ke, Sparrow Janet R, Tsang Stephen H

Abstract excerpt

Background: To evaluate the long-term progression of autosomal recessive retinitis pigmentosa (RP) due to mutations in KIZ using multimodal imaging and a quantitative analytical approach.Methods: Whole exome sequencing (WES) and targeted capture sequencing were used to identify mutation. Fundus photography, short-wavelength autofluorescence (SW-AF), spectral-domain optical coherence tomography (SD-OCT) imaging,...

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Identifiers

PMID: 32052671
DOI: 10.1080/13816810.2020.1723116
PMCID: PMC9070555

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