USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families

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...

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Bibliographic Details
Main Authors: Asif Naveed Ahmed, Raheel Tahir, Niamat Khan, Mushtaq Ahmad, Muhammad Dawood, Abdul Basit, Muhammad Yasin, Maha Nowshid, Muhammad Marwan, Komal Sultan, Shamim Saleha
Format: Article
Language:English
Published: BMC 2021-04-01
Series:BMC Ophthalmology
Subjects:
Recessive RP
USH2
Pakistani families
USH2A variants
Sanger sequencing
Online Access:https://doi.org/10.1186/s12886-021-01957-9

Internet

https://doi.org/10.1186/s12886-021-01957-9

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