Rapid identification of pathogenic mutations in sporadic hereditary retinal dystrophies using targeted next-generation sequencing

Authors: Fang Xinhe,  Zhang Fangxia,  Zhu Yan,  Liu Yani,  Sheng Xunlun

DOI: 10.3760/cma.j.issn.2095-0160.2017.12.009
Published 2017-12-10
Cite as Chin J Exp Ophthalmol, 2017,35(12): 1097-1103.

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Hereditary retinal diseases (HRDs) are a group of retinal degenerative diseases with significant genetic and clinical heterogeneities.Traditional techniques are challenging for detection of pathogenic mutations.


This study was to identify the diseasing-causal genes in 20 Chinese families with a variety of HRDs.


Family histories and ophthalmic examinations were obtained from all participants in 20 sporadic families.Targeted sequence capture array technique with next-generation sequencing (NGS) was performed to detect pathogenic mutations in 232 identified genes associated with HRDs.Variants detected by NGS were filtered by bioinformatic analysis HRDs.Genotype-phenotype correlation was also assessed.


We identified 11 patients with pathogenic mutations, including 8 compound heterozygous mutations and 3 homozygous mutations, which were not yet reported.These findings showed genetic diagnoses in 11 of 20 patients, with the positive rate of 55%.Among them, 6 patients were autosomal recessive inheritance and 5 were unspecific.Identification of different mutations and divergent phenotypes revealed 5 patients were affected with cone-rod dystrophy, 3 patients with Leber congenital amaurosis, 1 patient with congenital stationary night blindness, 1 patient with Best vitelliform macular dystrophy and 1 patient with Stargardt disease.


Targeted NGS is an effective approach for the genetic diagnoses of HRDs.These findings provide insights into understanding the genotype-phenotype correlations in HRDs.

Key words:

Hereditary retinal disease; Pathogenic mutations; Target gene capture; Next-generation sequencing

Contributor Information

Fang Xinhe
Ningxia Eye Hospital, Ningxia People′s Hospital, the Frist Affiliated Hospital of Northwest University for Nationalities, Yinchuan 750001, China
Zhang Fangxia
Zhu Yan
Liu Yani
Sheng Xunlun
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