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The clinical implications of molecular monitoring and analyses of inherited retinal diseases.

Expert review of molecular diagnostics - 1 Nov 2017

Chacón-Camacho Oscar F, García-Montaño Leopoldo A, Zenteno Juan C

Abstract excerpt

INTRODUCTION: Retinal dystrophies (RDs) are the most common cause of inherited blindness and one of the most genetically heterogeneous human diseases. RDs arise from mutations in genes involved in development and function of photoreceptors or other retinal cells. Identification of the genetic defect causing RD allows accurate diagnosis, prognosis, and counseling in affected patients. Molecular diagnosis is a...

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PMID: 28945154
DOI: 10.1080/14737159.2017.1384314

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