Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations

Author:

Cideciyan Artur V.,Jacobson Samuel G.,Sumaroka Alexander,Swider Malgorzata,Krishnan Arun K.,Sheplock Rebecca,Garafalo Alexandra V.,Guziewicz Karina E.,Aguirre Gustavo D.,Beltran William A.,Matsui Yoshitsugu,Kondo Mineo,Heon Elise

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference94 articles.

1. Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations;Aleman;Investigative Ophthalmology and Visual Science,2008

2. RDH12 mutations cause a severe retinal degeneration with relatively spared rod function;Aleman;Investigative Ophthalmology and Visual Science,2018

3. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa;Azam;Molecular Vision,2009

4. Peripapillary sparing in autosomal recessive bestrophinopathy;Birtel;Ophthalmology Retina,2020

5. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode;Bitner;Investigative Ophthalmology and Visual Science,2011

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