Importance of genetic and preimplantation genetic diagnosis in the prevention and treatment of inherited pediatric oculopathies

Authors: Chen Xue,  Zhao Chen

DOI: 10.3760/cma.j.issn.2095-0160.2018.07.002
Published 2018-07-10
Cite as Chin J Exp Ophthalmol, 2018,36(7): 489-493.

Abstract

Inherited pediatric oculopathies are a group of pediatric eye chiseases caused by genetic defects, and they are the primary causes of irreversible pediatric blindness.Common inherited pediatric oculopathies include inherited retinopathies, congenital cataract and retinoblastoma.Inherited pediatric oculopathies present distinct genetic and clinical heterogeneity.Lots of disease causative genes are involved in pathogenesis inherited of pediatric oculopathies, which brings many difficulties for genetic diagnosis.Concealed and complicated phenotypes and poor cooperation make it even more difficult for precise clinical diagnosis.Therefore, exploring molecular causes of inherited pediatric oculopathies, providing professional genetic concealing and guiding eugenic measures are important bases for better clinical diagnosis, disease intervention and gene therapy.It is also one of the current hotspots for ophthalmic research.

Key words:

Childhood; Inherited oculopathy; Genetic diagnosis; Preimplantation genetic diagnosis; Next-generation sequencing

Contributor Information

Chen Xue
Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
Zhao Chen
Department of Ophthalmology, Eye & ENT of Fudan Uinersity, Shanghai 200031, China
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