A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases

A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases

AIM: To characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa (RP) and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family. METHODS: Ophthalmic clinic performance was examined in detail in 8 enrolled family members. Genomic...

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Bibliographic Details
Main Authors: Hong-Dou Luo, Shao-Nan Pei, Ai-Jia Wang, Xue-Qing Yu, Hai-Jian Hu, Ling Zeng, Fei-Fei Wang, Ming Jin, Xu Zhang
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-12-01
Series:International Journal of Ophthalmology
Subjects:
retinitis pigmentosa
glaucoma
whole-exome sequencing
rho
Online Access:http://ies.ijo.cn/en_publish/2023/12/20231207.pdf

Internet

http://ies.ijo.cn/en_publish/2023/12/20231207.pdf

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