نتایج جستجو برای: congenital retinitis pigmentosa
تعداد نتایج: 128326 فیلتر نتایج به سال:
2 cases of laurence- moon-biedl syndrome are described in 2 rothers. they have 5 out of 6 cardinal symptoms of this syndrome i.e. : i) obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. besides, their only sister has ocular signs of beginning of retinitis igmentosa and one of their relatives had polydactylism and another ne cretinism. what is cu...
In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The severity of the phenotype due to human CRB1 or mouse Crb1 mutations is dependent on the genetic background. Mice on C57BL/6J background with Crb1 mutations show late onset of retinal spotting phenotype or no phenotype. Recently, we showed ...
PURPOSE The 208delG (c.72delG, p.Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD). The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration. METHODS DNA fragments encompassing the 208delG mutation were amp...
BACKGROUND Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identificat...
Objectives: To study the various causes of blindness among patients attending DR.R.S.P.R. Government Regional Eye Hospital, Visakhapatnam, for visual handicap certificates. understand relationship between age and sex with etiologies. Methods: Retrospective analysis records 272 (360 eyes) who had applied certificate in period 1 year, i.e., from August 2021 to July 2022, at DR. R. S. P. regional ...
Background: Approximately 250,000 visually impaired people were registered in Korea 2021, and eye diseases are often accompanied by various systemic diseases. This study aims to investigate the epidemiology, causative disease, rehabilitation treatment for low-vision patients.Current Concepts: Visual impairment ranges from blindness one total blindness. Low vision refers visual acuity of 0.3 0.0...
Hallervorden-spatz disease is an inherited metabolic disorder with autosomal recessive trait. Onset is in late childhood or early adolescence. Clinical manifestation is variable but pyramidal and extrapyramidal signs are often prominent. Many of patients show progressive dementia and extrapyramidal symptoms. Ataxia or myoclonus is reported in the course of the disease in individual cases. Focal...
Serum copper, ceruloplasmin, and urinary copper were estimated in 13 normal subjects and 24 patients with primary retinitis pigmentosa. The serum copper levels in patients appeared to be higher and ceruloplasmin levels lower than in the normal subjects. The patients seem to fall into 2 categories with regard to urinary copper. About a third of them excreted 2-4 times more copper in the urine, w...
We have used a color matching technique to estimate the optical density of the foveal cone photopigments in a group of patients with retinitis pigmentosa. We find that foveal cone optical density is reduced in patients with retinitis pigmentosa. This reduction of density can occur early in the disease process and is found in patients with minimal visual field loss or 20/20 visual acuity. Foveal...
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in infants and children. SPATA7 has recently been identified as the LCA3 and juvenile RP gene in humans, whose function in the retina remains elusive. Here, we show that SPATA7 localizes at the primary cilium of cells and at the connecting cilium (CC) of photorece...
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