نتایج جستجو برای: bardetbiedl syndrome hypogonadism retinitis pigmentosa chronic kidney failure dialysis
تعداد نتایج: 1505227 فیلتر نتایج به سال:
background endothelial injury is a well-known complication in chronic kidney disease (ckd) and hemodialysis. one of the sites in which early vascular changes may be detected is the retina. of course, these flow changes may not be detected in ophthalmologic exams, but it seems that color doppler sonography of retinal arteries may be helpful in these cases. objectives in previous studies on ckd p...
conclusions according to high prevalence of malnutrition in our patients with esrd undergoing hemodialysis, periodic assessment of nutritional status is necessary in them. meanwhile we found sga as the best tool to assess nutritional status in patients with esrd undergoing hemodialysis, because it can recognize various degrees of malnutrition that may remain undetected by a single laboratory as...
BACKGROUND Senior-Loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. We describe the clinical features of a Japanese patient with Senior-Loken syndrome emphasizing the importance of the ophthalmic findings in determining a correct diagnosis. CASE A 6-year-old Japanese girl had anemia, mental retardation, and poor vision. OBSERVATIONS...
To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced pro...
Conorenal syndrome or Saldino Mainzer is a rare hereditary disease characterized by cone-shaped epiphyses of the phalanges, retinitis pigmentosa and renal manifestations (nephropathy). Case report: Herein we report an eight years old girl with a collection of signs and symptoms compatible with conorenal syndrome. She first presented with dactylitis, dysuria, frequency, discolored urine and pro...
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...
Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) associated with other systemic signs (syndromic RP). Kidney damage exceptionally reported in patients RP, particularly syndromic forms. Association renal amyloidosis remains unusual only one case of RP and gelsolin due to G654A mutation defining the new syndrome Ardalan-Shoja-Kiur...
Bardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be different from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism. Our aim is to report a case with typical retinis pigmen...
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...
purpose: to report treatment with intravitreal triamcinolone acetonide (ivta) in a patient with cystoid macular edema (cme) secondary to retinitis pigmentosa (rp). case report: a 22-year-old male patient with rp presented with progressive visual loss. visual acuity was 9/10 in the right eye and 10/10 in the left eye without refractive error. examination revealed cme in the right eye. after fail...
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