Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many
disease‐causing genes, many known mutations, and highly varied clinical consequences …

Retinal neurodegeneration is predominantly reported as the apoptosis or impaired function
of the photoreceptors. Retinal degeneration is a major causative factor of irreversible vision …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

The normal development and function of photoreceptors is essential for eye health and
visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor …

Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

Homozygosity mapping and exome sequencing have accelerated the discovery of gene
mutations and modifier alleles implicated in inherited retinal degeneration in humans. To …

Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked
congenital disorder characterized by congenital cataracts and glaucoma, mental retardation …

Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000–8000
individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is …