Results 111 to 120 of about 10,317 (215)
Stargardt's Disease : Case Report
Sriwijaya Journal of Ophthalmology, 2018 Introduction. The Stargardt disease is a frequent macular dystrophy and the most common cause of decreased central visus in adults below 50 years. This condition is caused by the presence of mutations in the ABCA4 gene, located in the chromosome chain 1 short sleeve, which encode the ATP-binding cassette (ABC) protein transporter expressed by the outer
null Dian Ariani, AK Ansyori, Ramzi Amin
openaire +2 more sources
Journal of Ophthalmology, 2018 To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations.
Yousra Falfoul +6 more
doaj +1 more source
Estimation of a physician practice cost function [PDF]
, 2013 This is the first study to specify a physician practice cost function with practice costs as the unit of analysis. Our study is based on the data of 3,706 physician practices for the years 2006 to 2008. We propose a model using physician practices as the
Heimeshoff, Mareike, Schreyögg, Jonas
core
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease
Journal of Ophthalmology, 2017 Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment ...
Edoardo Abed +8 more
doaj +1 more source
, 2011 Hintergrund: Bei der trockenen Makuladegeneration wird deutlicher, dass es sich bis zu 10% mehr oder weniger um genetisch bedingte Fälle handelt. Methoden: Wir haben die klinischen und genetischen Daten von 19 Patienten bei denen ursprünglich die Diagnose trockene, altersbedingte Makuladegeneration[for full text, please go to the a.m. URL]
Hoyng, CB, den Hollander, A, Boon, C
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Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]
, 2013 BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
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Monitoring and Management of the Patient with Stargardt Disease
Clinical Optometry, 2019 Maria Vittoria Cicinelli, Marco Battista, Vincenzo Starace, Maurizio Battaglia Parodi, Francesco Bandello Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, ItalyCorrespondence: Maria Vittoria CicinelliDepartment of ...
Cicinelli MV +4 more
doaj
Distrofias hereditarias retinianas: Estudio retrospectivo descriptivo [PDF]
, 2019 Nuestro objetivo es analizar la distribución de las diferentes patologías que componen las Distrofias Hereditarias de la Retina (DHR), describir las características de los pacientes afectos, además de conocer la proporción de pacientes que tienen hecho
Orduz Montaña, Willian Andrés
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Retinal de novo lipogenesis coordinates neurotrophic signaling to maintain vision [PDF]
, 2018 Adak, Sangeeta +11 more
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