A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was ...

PURPOSE Non-linear regression analysis was used to determine dark adaptation indices in people with retinitis pigmentosa and in control subjects. METHODS Dark adaptation data were collected for 13 people with retinitis pigmentosa and 21 controls using the Goldmann-Weekers Dark Adaptometer. Data were analysed using an exponential non-linear regression model and dark adaptation indices derived....

We clinically evaluated 338 patients with various genetic types of retinitis pigmentosa (RP) for the presence of posterior subscapsular (PSC) lens opacities. Of these, 180 (53%) had PSC lens changes or were bilaterally aphakic. Patients with X-linked recessive RP showed a greater prevalence and patients with autosomal dominant RP a lesser prevalence of PSC lens changes compared with autosomal r...

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes isolated retinitis pigmentosa (RP). To date, 84 7 candidate have been described for non-syndromic RP. Each these encodes protein that plays role vital retina / or retinal pigment epithelium, including cascade phototransduction (transmission visual signal), cycle, ciliary trans...

PURPOSE Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous retinal disorder. Despite tremendous knowledge about the genes involved in RP, little is known about the genetic causes of RP in Indonesia. Here, we aim to identify the molecular genetic causes underlying RP in a small cohort of Indonesian patients, using genome-wide homozygosity mapping. METHODS DNA samples from ...

Retinitis pigmentosa (RP) is a severe hereditary eye disease characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases. Germline mutations of CNGB1 is associated with retinitis pigmentosa. We have identified and investigated a 34-year-old Chinese man with markedly h...

Ciliopathies encompass a group of genetic disorders characterized by defects in the formation, maintenance, or function of cilia. Retinitis pigmentosa (RP) is frequently one of the clinical features presented in diverse ciliopathies. RP is a heterogeneous group of inherited retinal disorders, characterized by the death of photoreceptors and affecting more than one million individuals worldwide....

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known ca...

Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. D...