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Turksever C.,University of Basel | Valmaggia C.,Cantonal Hospital | Orgul S.,University of Basel | Schorderet D.F.,IRO Institute for Research in Ophthalmology | And 4 more authors.
Acta Ophthalmologica | Year: 2014

Purpose To study the influence of retinal structural changes on oxygen saturation in retinitis pigmentosa (RP) patients. Methods Oximetry measurements were performed on 21 eyes of 11 RP patients and compared to 24 eyes of 12 controls. Retinal oxygen saturation was measured in all major retinal arterioles (A-SO2) and venules (V-SO2) with an oximetry unit of the retinal vessel analyser (IMEDOS Systems UG, Jena, Germany). Oximetry data were compared with morphological changes measured by Cirrus optical coherence tomography (OCT) (Carl Zeiss Meditec, Dublin, CA, USA, macular thickness protocol). Results In RP patients, the retinal A-SO2 and V-SO 2 levels were higher at 99.3% (p = 0.001, anova based on mixed-effects model) and 66.8% (p < 0.001), respectively, and the difference between the two (A-V SO2) was lower at 32.5% (p < 0.001), when compared to the control group (92.4%; 54.0%; 38.4%, respectively). With the RP group, the A-V SO2 correlated positively, not only with central macular thickness, but also with retinal thickness, in zones 2 and 3 (p = 0.006, p = 0.007, p = 0.014). Conclusion These data indicate that oxygen metabolism was altered in RP patients. Based on our preliminary results, retinal vessel saturation correlated with structural alterations in RP. This method could be valuable in monitoring disease progression and evaluating a potential therapeutic response. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd. Source


Schorderet D.,IRO Institute for Research in Ophthalmology | Schorderet D.,Ecole Polytechnique Federale de Lausanne | Schorderet D.,University of Lausanne
Progress in Molecular Biology and Translational Science | Year: 2015

In this chapter, I shall discuss the genetics, mode of inheritance and molecular origin of several corneal dystrophies. © 2015 Elsevier Inc. Source


Schorderet D.,IRO Institute for Research in Ophthalmology
Progress in molecular biology and translational science | Year: 2015

In this chapter, I shall discuss the genetics, mode of inheritance and molecular origin of several corneal dystrophies. © 2015 Elsevier Inc. All rights reserved. Source


Abouzeid H.,University of Lausanne | Abouzeid H.,IRO Institute for Research in Ophthalmology | Ferrini W.,University of Lausanne
Acta Ophthalmologica | Year: 2014

Introduced in 2008, the femtosecond laser is a promising new technological advance which plays an ever increasing role in cataract surgery where it automates the three main surgical steps: corneal incision, capsulotomy and lens fragmentation. The proven advantages over manual surgery are: a better quality of incision with reduced induced astigmatism; increased reliability and reproducibility of the capsulotomy with increased stability of the implanted lens; a reduction in the use of ultrasound. Regarding refractive results or safety, however, no prospective randomized study to date has shown significant superiority compared with standard manual technique. The significant extra cost generated by this laser, undertaken by the patient, is a limiting factor for both its use and study. This review outlines the potential benefits of femtosecond-laser-assisted cataract surgery due to the automation of key steps and the safety of this new technology. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd. Source


Abouzeid H.,IRO Institute for Research in Ophthalmology | Abouzeid H.,University of Lausanne | Boisset G.,IRO Institute for Research in Ophthalmology | Favez T.,IRO Institute for Research in Ophthalmology | And 11 more authors.
American Journal of Human Genetics | Year: 2011

Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites. © 2011 The American Society of Human Genetics. Source

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