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

The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely
vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

RP2 mutations cause a severe form of X-linked retinitis pigmentosa (XLRP). The mechanism
of RP2-associated retinal degeneration in humans is unclear, and animal models of RP2 …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or
retinal pigment epithelium. Gene therapy in mouse and dog models of a primary retinal …

Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause
progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked …

Centrosome-and cilia-associated proteins play crucial roles in establishing polarity and
regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional …

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children,,. Identification of four genes mutated in NPHP subtypes 1–4 (refs.–) has linked the …

Inherited retinal diseases (IRDs) are a genetically variable collection of devastating
disorders that lead to significant visual impairment. Advances in genetic characterization …