Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically
heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30 …

X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to
legal blindness in males and a broad severity spectrum in carrier females. Pathogenic …

The purpose of this study was to develop a flexible, cost-efficient, next-generation
sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction …

Inherited retinal dystrophies (IRDs) are a global problem that is largely unaddressed,
especially in Africa. Black indigenous Africans are rarely represented in research that …

Introduction RPGR ORF15 is an exon present almost exclusively in the retinal transcript of
RPGR. It is purine-rich, repetitive and notoriously hard to sequence, but is a hotspot for …

Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis
pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing …

X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is one of the
most severe forms of RP due to its early onset and intractable progression. Most cases have …

ABSTRACT Background Retinal dystrophies (RDs) are the most common cause of inherited
blindness worldwide and are caused by genetic defects in about 300 different genes. While …

Background The RPGR gene has been associated with X‐linked cone‐rod dystrophy. This
report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR …