Retinitis pigmentosa (RP) is a blinding disease often associated with mutations in rhodopsin, a light-sensing G protein-coupled receptor and phospholipid scramblase. Most RP-associated mutations affect rhodopsin's activity or transport to disc membranes. Intriguingly, some mutations produce apparently normal rhodopsins that nevertheless cause disease. Here we show that three such enigmatic muta...

A 45-year-old man with retinitis pigmentosa (RP), who had undergone uneventful extracapsular cataract extraction (ECCE) in his right eye eight years previously, and phacoemulsification in his left eye six years previously, had spontaneously dislocated intraocular lenses (IOL) within the capsular bag in both eyes one month apart. We removed the dislocated IOLs, and performed anterior vitrectomy ...

PURPOSE This study was designed to identify pathogenic mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families. METHODS Two consanguineous families affected with autosomal recessive RP were identified from the Punjab Province of Pakistan. All affected individuals underwent a thorough ophthalmologic examination. Blood samples were collected, and gen...

Oxidative stress is implicated in various neurodegenerative disorders, including retinitis pigmentosa (RP), an inherited disease that causes blindness. The biological and cellular mechanisms by which oxidative stress mediates neuronal cell death are largely unknown. In a mouse model of RP (rd10 mice), we show that oxidative DNA damage activates microglia through MutY homolog-mediated (MUYTH-med...

Purpose To evaluate the effect of acupuncture therapy on visual function of patients with retinitis-pigmentosa (RP). Methods In a prospective study, 23 RP subjects received ten sessions of body-acupuncture. Pre and post-treatment evaluations included best corrected visual acuity (BCVA), uncorrected visual acuity (UCVA), near visual acuity (NVA), and static 30-2 perimetry. Results UCVA, BCVA...

Retinal astrocytic hamartomas are benign intraocular tumors classically associated with phacomatoses. Their appearance in isolation is rare. An association between astrocytic hamartomas and retinitis pigmentosa (RP) has been described previously, but controversy still exists regarding the precise nature of these lesions in RP patients. The authors present a case report of a 24-year-old male wit...

PURPOSE Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations characterized by progressive loss of photoreceptor cells and RPE functions. More than 70 causative genes are known to be responsible for RP. This study aimed to identify the causative gene in a patient from a consanguineous family with childhood-onset severe retinal dystrophy...

PURPOSE Describing the ophthalmic findings of an exudative vasculopathy called as Coats-like retinitis pigmentosa on three patients. The etiology of the Coats-like retinitis pigmentosa is obscure. The principal theories have been discussed in this article. METHODS Three observational case series have been discussed. Complete ophthalmic examinations and color fundus photos, visual field, and f...

PURPOSE To determine peripapillary retinal nerve fiber layer thickness (RNFL) abnormalities in patients with retinitis pigmentosa (RP) using Fourier-domain optical coherence tomography (Fd-OCT) and to evaluate the potential effect of cystoid macular edema (CME) or axial length on RNFL measurements in such patients. METHODS Ninety-seven eyes of 52 patients with diagnoses of retinitis pigmentos...

INTRODUCTION Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. CASE PRESENTATION We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom Refsum disease was subsequently diagnosed midlife, after routine enquiry into hand and fe...