نتایج جستجو برای: linked retinitis pigmentosa
تعداد نتایج: 243752 فیلتر نتایج به سال:
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...
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...
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 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 ...
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...
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...
Twenty-five patients with retinitis pigmentosa and retinal leakage were investigated. Oedema was present in dominant and X-linked inherited disease and is likely to be present in recessive disease as well. We suggest that this might be a general response seen in many types of tapeto-retinal degeneration to actively degenerating photoreceptors or pigment epithelium.
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...
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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