Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

Due to improved phenotyping and genetic characterization, the field of 'incurable'and
'blinding'inherited retinal diseases (IRDs) has moved substantially forward. Decades of …

Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a
primary photoreceptor degeneration that leads to severe sight loss in young people. In the …

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

X-linked retinitis pigmentosa (XLRP) is generally a severe form of retinitis pigmentosa, a
neurodegenerative, blinding disorder of the retina. 70% of XLRP cases are due to mutations …

Cilia are highly specialized cellular organelles that serve multiple functions in human
development and health. Their central importance in the body is demonstrated by the …

Objective The NLRP3 inflammasome has been shown to be involved in the development of
uveitis, but the exact mechanism remains elusive. This study was undertaken to explore the …

Mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene are a major
cause of retinitis pigmentosa, a blinding retinal disease resulting from photoreceptor …

Background Small promoters that recapitulate endogenous gene expression patterns are
important for basic, preclinical, and now clinical research. Recently, there has been a …