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

Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of
these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of …

Purpose: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide.
Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have …

Abstract Importance Inherited retinal dystrophies (IRDs) are a group of monogenic diseases,
one of the leading causes of blindness. Background Introducing a comprehensive genetic …

The first step in vision is the absorption of photons by the photopigments in cone and rod
photoreceptors. After initial amplification within the phototransduction cascade the signal is …

Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors,
exhibits significant genetic heterogeneity. Several genes associated with U4/U6–U5 triple …

Importance Infantile nystagmus syndrome (INS) is a group of disorders presenting with
genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses …

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD)
characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically …

The visual process begins with the absorption of photons by photopigments of cone and rod
photoreceptors in the retina. In this process, the signal is first amplified by a cyclic guanosine …

Objective The purpose of this study was to investigate frequent disease-causing gene
mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population …