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Article

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.

The British journal of ophthalmology - 1 Jan 2018

Song Hongxin, Rossi Ethan A, Stone Edwin, Latchney Lisa, Williams David, Dubra Alfredo, Chung Mina

Abstract excerpt

PURPOSE: Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging to elucidate the retinal phenotype at a cellular level in patients with AD-CRD harbouring a defect in the GUCA1A gene....

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Identifiers

PMID: 29074494
DOI: 10.1136/bjophthalmol-2017-310498
PMCID: PMC5754866

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