PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family
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 mem...
Saved in:
Main Authors: | Xiaohong Meng, Qiyou Li, Hong Guo, Haiwei Xu, Shiying Li, Zhengqin Yin |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2017-01-01
|
Series: | Journal of Ophthalmology |
Online Access: | http://dx.doi.org/10.1155/2017/4156386 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation
by: Kiyoko Gocho, et al.
Published: (2014-01-01) -
Spectral Domain Optical Coherence Tomographic Findings of Bietti Crystalline Dystrophy
by: Ali Osman Saatci, et al.
Published: (2014-01-01) -
Cystoid Macular Edema in Bietti's Crystalline Retinopathy
by: Ali Osman Saatci, et al.
Published: (2014-01-01) -
Quantitative swept-source optical coherence tomography angiography (SS-OCTA) analysis of macular microvascular alterations in Bietti crystalline dystrophy
by: Shiyi Yin, et al.
Published: (2025-04-01) -
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
by: Yuuki Arai, et al.
Published: (2015-01-01)