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10.1001/jamaophthalmol.2013.4349 http://scihub22266oqcxt.onion/10.1001/jamaophthalmol.2013.4349 C4405536!4405536!23989059     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       JAMA+Ophthalmol 2013 ; 131 (10): 1324-30 Nephropedia Template TP {{tp|p=23989059|t=2013. Expanded Clinical Spectrum of Enhanced S-Cone Syndrome |pdf=|usr=}}{{23989059}} gab.com Text Expanded Clinical Spectrum of Enhanced S-Cone Syndrome JO: JAMA Ophthalmol http://www.kidney.de/pget.php?&tw=1&pmid=23989059 #FOAvip IMPORTANCE: New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. OBJECTIVE: To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. DESIGN: Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012. SETTING: Academic and private ophthalmology practices specialized in retinal dystrophies. PARTICIPANTS: A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations. INTERVENTION: Patients had ophthalmic examinations including visual function testing that led to the original diagnosis. MAIN OUTCOMES AND MEASURES: New fundus features captured with imaging modalities. RESULTS: New clinical observations in ESCS include (1) torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably sized and predominantly located along the arcades; (2) circumferential fibrotic scars in the posterior pole with a spared center and large fibrotic scars around the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing retina. CONCLUSIONS AND RELEVANCE: Enhanced S-cone syndrome has more pleiotropy than previously appreciated. While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and ?torpedo-like? lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis. Twit Text FOAVip Expanded Clinical Spectrum of Enhanced S-Cone Syndrome ????JAMA Ophthalmol http://www.kidney.de/pget.php?&tw=1&pmid=23989059 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23989059 #FOAvip English Wikipedia <ref>{{Cite pmid|23989059}}</ref> Expanded Clinical Spectrum of Enhanced S-Cone Syndrome #MMPMID23989059 Yzer S; Barbazetto I; Allikmets R; van Schooneveld MJ; Bergen A; Tsang SH; Jacobson SG; Yannuzzi LA JAMA Ophthalmol 2013[Oct]; 131 (10): 1324-30 PMID23989059show ga IMPORTANCE: New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. OBJECTIVE: To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. DESIGN: Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012. SETTING: Academic and private ophthalmology practices specialized in retinal dystrophies. PARTICIPANTS: A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations. INTERVENTION: Patients had ophthalmic examinations including visual function testing that led to the original diagnosis. MAIN OUTCOMES AND MEASURES: New fundus features captured with imaging modalities. RESULTS: New clinical observations in ESCS include (1) torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably sized and predominantly located along the arcades; (2) circumferential fibrotic scars in the posterior pole with a spared center and large fibrotic scars around the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing retina. CONCLUSIONS AND RELEVANCE: Enhanced S-cone syndrome has more pleiotropy than previously appreciated. While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and ?torpedo-like? lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis. äExpanded Clinical Spectrum of Enhanced S-Cone Syndrome (epmc).pdf DeepDyve Pubget Overpricing