The family of inherited ocular diseases that is collectively known as retinitis pigmentosa is a major cause of progressive retinal disease worldwide. As such, this family of diseases has been the object of much scientific scrutiny, both clinical and basic. The recent application of molecular genetic analyses has heralded the rapid elucidation of the underlying gene defects in many cases. In thi...

Retina Implants have the purpose to restore visual perception in blind patients suffering from retinitis pigmentosa (RP) and eventually also age-related macular degeneration (AMD). Electrical stimulation of the remaining retinal nerve fibre layers leads to visual sensations (phosphenes) [1, 2]. Our retina implant consisting of a light sensitive CMOS chip (1,500 pixels) and 16 separate direct st...

Accumulation of misfolded proteins in the endoplasmic reticulum (ER) and their aggregation impair normal cellular function and can be toxic, leading to cell death. Prolonged expression of misfolded proteins triggers ER stress, which initiates a cascade of reactions called the unfolded protein response (UPR). Protein misfolding is the basis for a variety of disorders known as ER storage or confo...

PURPOSE To examine rhodopsin gene mutations in Japanese patients with retinitis pigmentosa. METHODS We performed a mutational analysis of the rhodopsin gene in 42 patients from 40 families with retinitis pigmentosa. Genomic DNA was amplified by polymerase chain reaction (PCR) and the PCR products were sequenced. Restriction enzyme analysis was performed in family members of 1 patient with a r...

AIM To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. METHODS A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years. On examination, he had the characteristic features of retinitis pigmentosa with the fundus showing disc pallor, bony spicules and arteriolar attenuation. His anterior segment examination s...

In experimental animals where the generation time is short and matings can be controlled experimentally, it is a relatively simple task to determine whether a trait is genetic, how it is inherited, and where the causal gene pair is located. However, in human genetics, inferences must be drawn by pooling observations on many small families in which the trait of interest has occurred. The conditi...

purpose: retinitis pigmentosa (rp) is a hereditary eye disease in human beings. it commences at childhood and continues by nyctalopia and gradual reduction of visual field and ends up by blindness. it may be inherited in three forms of autosomal dominant, autosomal recessive and sex-linked. in this investigation we intend to study rp type as a sex-linked disease and its location on x chromosome...

PURPOSE To report the efficacy of intravitreal dexamethasone implant in a patient with retinitis pigmentosa and bilateral cystoid macular edema unresponsive to topical carbonic anhydrase inhibitors. CASE REPORT A 36-year-old man with bilateral cystoid macular edema associated with retinitis pigmentosa that was unresponsive to topical carbonic anhydrase inhibitors underwent bilateral 0.7-mg in...

OBJECTIVE To report a rare case of unilateral retinitis pigmentosa and to present the clinical features, and findings of multifocal ERG and visual field of this case. CASE A 70-year-old-female diagnosed as Retinitis Pigmentosa in right eye 7 years back, presented with further gradual painless diminution of vision in the very eye and without any similar symptoms in left eye. On examination, th...

OBJECTIVE To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the associated phenotype. METHODS Individuals from two unrelated families underwent full ophthalmic examinations. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Linkage analysis was performed on the known genetic loci ...