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Journal of Ophthalmology
Volume 2017, Article ID 4156386, 10 pages
Research Article

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family

1Southwest Hospital and Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China
2Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China
3Department of Medical Genetics, Third Military Medical University, Chongqing 400038, China

Correspondence should be addressed to Shiying Li; moc.621@il_gniyihs and Zhengqin Yin; moc.nuyila@niyzniq

Received 16 May 2017; Accepted 2 July 2017; Published 7 August 2017

Academic Editor: Mineo Kondo

Copyright © 2017 Xiaohong Meng et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Purpose. To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. Methods. A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected. Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2. The detected variants in NGS were validated by Sanger sequencing in the family members. Results. Two compound heterozygous CYP4V2 mutations (c.802-8_810del17insGC and c.992A>C) were detected in the proband who presented typical clinical features of BCD. One missense mutation (c.1482C>T, p.T494M) in the PRPF3 gene was detected in 9 out of 22 affected family members who manifested classical clinical features of RP. Conclusions. Our results showed that two compound heterozygous CYP4V2 mutations caused BCD, and one missense mutation in PRPF3 was responsible for adRP in this large family. This study suggests that accurate phenotypic diagnosis, molecular diagnosis, and genetic counseling are necessary for patients with hereditary retinal degeneration in some large mutigenerational family.