Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

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

Retinitis pigmentosa (RP) is an irreversible, inherited retinopathy in which early-onset
nyctalopia is observed. Despite the genetic heterogeneity of RP, RPGR mutations are the …

Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and
phenotypic heterogeneity, with retinal alterations solely or predominantly involving the …

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 …

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered …

Retinitis pigmentosa (RP) refers to a group of inherited disorders in which abnormalities of
the photoreceptors (rods and cones) of the retina lead to progressive visual loss. RP is …

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

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