PURPOSE To characterize the clinical features of 14 Japanese patients with autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mutation in the FSCN2 gene. METHODS Mutation screening by single-strand conformation polymorphism (SSCP) was performed in 120 unrelated patients with ADRP, 200 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), and 100 patient...

Retinitis pigmentosa (RP) is a rare heterogeneous genetic retinal dystrophy disease, and despite years of research, known genetic mutations can explain only approximately 60% of RP cases. We sought to identify the underlying genetic mutations in a cohort of fourteen Indian autosomal recessive retinitis pigmentosa (arRP) families and 100 Indian sporadic RP cases. Whole-exome sequencing (WES) was...

In the past decade, we have witnessed great advances in the identification of genes underlying numerous neurodegenerative diseases and the stark complexity determining genotype-phenotype relationships that lead to the impairment, and ultimately, premature death of neurons. However, significant challenges lie ahead in understanding the pathobiological and spatiotemporal processes triggered by ge...

PURPOSE To report a case of a young patient with retinitis pigmentosa (RP), essential iris atrophy, and glaucoma. CASE REPORT This report presents a case of a 22-year-old female patient with unilateral glaucoma, increased intraocular pressure, increased cup-disc ratio, iris atrophy, peripheral anterior synechiae, and bilateral RP. DISCUSSION The patient presented glaucoma due to the iridoco...

Retinitis pigmentosa (RP) represents a group of progressive hereditary diseases of the retina that lead to incurable blindness and affect two million people worldwide and principally characterized by progressive rod-dominant photoreceptor degeneration in the initial stage and eventual cone photoreceptor degeneration in later stages. RP has been known to be initiated by photoreceptor apoptosis a...

BACKGROUND Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. The characteristics of the...

PURPOSE The purpose of this study was to evaluate and compare the mental health of patients with retinitis pigmentosa (RP) with that of the general population of Korea. METHODS Online surveys were completed by patients registered with the KRPS (Korean Retinitis Pigmentosa Society), an online organization that promotes research on RP and provides advocacy and online and offline support and inf...

Retinitis pigmentosa (RP) is a common retinal degeneration disease caused by mutation in any gene of the photo transduction cascade and results in photoreceptor dystrophy. Over decades, several animal models have been used to address the need for the elucidation of effective therapeutics and factors regulating retinal degeneration to prohibit or renew the damaged retina. However, controversies ...

AIM to investigate correlations between changes in ocular hemodynamics revealed by color Doppler flow mapping (CDFM) and pulsed-wave (PW) Doppler imaging, one the one hand, and electrical activity of the retina, on the other, in patients with early, moderate, and severe retinitis pigmentosa (RP). MATERIAL AND METHODS A total of 20 patients (40 eyes) aged from 16 to 40 years (28.4 ± 8.2 years ...

Retinitis pigmentosa (RP) is a common retinal degeneration disease caused by mutation in any gene of the photo transduction cascade and results in photoreceptor dystrophy. Over decades, several animal models have been used to address the need for elucidation of effective therapeutics and factors regulating retinal degeneration to prohibit or renew the damaged retina. However, controversies over...