A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Abstract Background Retinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually leads to legal blindness. Our study aimed to identify the underlying genetic cause of autosomal recessive retinitis pigmentosa (arRP) in a consa...

Full description

Bibliographic Details
Main Authors: Nobia Aziz, Mukhtar Ullah, Abdur Rashid, Zubair Hussain, Khadim Shah, Azeem Awan, Muhammad Khan, Inam Ullah, Atta Ur Rehman
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Ophthalmology
Subjects:
Inherited retinal disorders
Homozygous
Autozygosity
Retinitis pigmentosa
PDE6B
Pakistan
Online Access:https://doi.org/10.1186/s12886-023-02845-0

Internet

https://doi.org/10.1186/s12886-023-02845-0

Similar Items