USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
Abstract Background Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20–30 % of RP cases. Mutations in the USH2A gene cause a si...
Main Authors: | , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2021-04-01
|
Series: | BMC Ophthalmology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12886-021-01957-9 |