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

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

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 …

Many clinical trials using gene therapy have shown significant therapeutic benefits and
exceptional safety records. Increasing evidence is verifying the long sought-after promise …

Retinitis pigmentosa is the most common form of hereditary retinal degeneration causing
blindness. Great progress has been made in the identification of the causative genes. Gene …

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 …

The recent approval of voretigene neparvovec (Luxturna®) for patients with biallelic RPE65
mutation-associated inherited retinal dystrophy with viable retinal cells represents an …

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 …

The generation of retinal organoids from human pluripotent stem cells (hPSC) is now a well-
established process that in part recapitulates retinal development. However, hPSC-derived …

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 …