نتایج جستجو برای: congenital retinitis pigmentosa

تعداد نتایج: 128326  

2011
Kazumi Oomachi Kazuha Ogata Takeshi Sugawara Akira Hagiwara Akira Hata Shuichi Yamamoto

BACKGROUND The purpose of this study was to determine visual acuity at different contrast levels under photopic and mesopic conditions in patients with retinitis pigmentosa. METHODS Sixty eyes of 31 normal controls, 92 eyes of 52 patients with retinitis pigmentosa without other ocular disorders (RP-1 group), and 20 eyes of 14 patients with retinitis pigmentosa with cataracts and without other...

Journal: :journal of current ophthalmology 0
غلامرضا نورزاد gholamreza nourzad مهناز باقرشیرودی mahnaz baghershiroodi

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...

2013
Ali Osman Saatci Ozlem Barut Selver Goktug Seymenoglu Aylin Yaman

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...

Journal: :Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH 2015
D Bhattarai N Paudel P Adhikari S Gnyawali S N Joshi

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...

Journal: :BMJ open ophthalmology 2023

Background A five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD). Methods WES was performed unaffected affected individuals within pedigree followed bioinformatic analyses these data to identify disease-causing variants damaging pathogenicity sc...

2015
Francesco Saverio Sorrentino Claudio Bonifazzi Paolo Perri

Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric visual field restriction, which may bring about severe central vision impairment. Haemodynamic studies in patients with retinitis pigmentosa have demonstrated ocular blood flow abnormalities both in ...

2015
Meri Watanabe Shinji Makino Hironobu Tampo

We present a case of Coats’-like retinitis pigmentosa in a 22-year-old female patient. Both eyes showed the typical funduscopic features of retinitis pigmentosa, and the right eye showed scar formation due to exudative retinal detachment in the temporal peripheral retina with dilatation of the retinal vessels. Fluorescein angiography did not show dye leakage at the scar lesion or the dilated re...

Journal: :The British journal of ophthalmology 1982
R K Crouch J K Chambers

Blood samples obtained from 22 patients with retinitis pigmentosa, 6 unaffected family members, and 8 unrelated controls showed serum copper and zinc to be in the normal range, contrary to the results in earlier reports. Likewise no significant variation of erythrocyte superoxide dismutase (SOD) and catalase levels was found between the 3 groups or when the patients were grouped by sex, age, or...

Journal: :International journal of medical anesthesiology 2021

Retinitis pigmentosa is typically bilateral and symmetric. There currently no treatment that can stop the process of retinitis pigmentosa, but gene therapy shows promise. a bilateral, progressive retinal degeneration ultimately leads to death both rod cone photoreceptors. generally symmetric, present asymmetrically. Other complications associated with include posterior subcapsular cataracts cys...

Journal: :iranian journal of medical sciences 0
rajendrakumar parakh department and institutions, sdm college of medical sciences and hospital, sattur, dharwad-580009, state-karnataka, india dhananjaya matapadi nairy department and institutions, sdm college of medical sciences and hospital, sattur, dharwad-580009, state-karnataka, india

bardet-biedl syndrome (bbs) is one of the rare autosomal recessive disorders that affect multiple organs of the body. the signs and symptoms of this condition vary among affected individuals, even among members of the same family. we present a case of bbs with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

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