Search results for "Genetic Structures"
showing 10 items of 2107 documents
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
2002
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer
2017
International audience; Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular…
Accuracy and accommodation capability of a handheld autorefractor
2000
Purpose: To determine the accuracy of measurement by the Nikon Retinomax handheld autorefractor and its ability to relax accommodation. Setting: Pediatric Section, Department of Ophthalmology, University of Mainz, Germany. Methods: To perform a series of comparative measurements, autorefractor readings were obtained on healthy young adults (students) and on children aged 2 to 12 years. The autorefractor readings were compared with subjective refractions of the young adults and with cycloplegic retinoscopy of the children. Results: In adults, the accuracy of the handheld autorefractor measurements was comparable to that of conventional tabletop autorefractors. In children, the autorefractor …
Preoperative simulation of postoperative iris-fixated phakic intraocular lens position and simulation of aging using high-resolution Scheimpflug imag…
2006
To increase postoperative safety after implantation of iris-fixated phakic intraocular lenses (pIOLs), optimal preoperative evaluation and patient selection is mandatory. We present a new software tool in a high-resolution Scheimpflug imaging device that precisely simulates the postoperative position of an iris-fixated pIOL and also simulates the effect of aging on the pIOL's position.
Goldmann Tonometry After Hyperopic Laser In Situ Keratomileusis
2004
PURPOSE To identify differences in applanation tonometry between retreated and nonretreated eyes (primary LASIK eyes) 6 months after hyperopic laser in situ keratomileusis. METHODS In a prospective study 100 eyes (100 patients) underwent conventional hyperopic laser in situ keratomileusis under a 160-microm flap. Central Goldmann applanation tonometry was determined before and 6 months after surgery in 78 (78%) primary LASIK eyes and before surgery and 6 months after the retreatment date in 22 (22%) retreated eyes. RESULTS Preoperative mean tonometry was 14.96 +/- 1.96 mm Hg and 15.30 +/- 1.95 mm Hg in primary LASIK and retreated eyes, respectively. Six months after surgery it was 12.99 +/-…
Effect of contact lenses on ocular biometric measurements based on swept-source optical coherence tomography
2019
ABSTRACT Purpose: To determine the reliability of swept- source optical coherence tomography in cases in which soft contact lenses cannot be removed when acquiring biometric measurements. Methods: Eight subjects were included and only one eye per participant was analyzed. Each eye was measured six times by swept-source optical coherence tomography with the IOLMaster 700 instrument (Carl Zeiss Meditec, Jena, Germany). Axial length, central corneal thickness, anterior chamber depth, lens thickness, and keratometric measurements were evaluated for the naked eye and while wearing soft contact lenses of three different powers (-1.5, -3.0, and +2.0 D). Results: There were statistically significan…
Evaluation of the practicality of optical biometry and applanation ultrasound in 253 eyes
2003
Abstract Purpose To evaluate the percentage of eyes that could not be measured using optical biometry and ultrasound applanation and the reasons. Setting Department of Ophthalmology, Johannes Gutenberg-University Hospital, Mainz, Germany. Methods Optical biometry (IOLMaster®, Carl Zeiss Meditec AG) and A-scan ultrasound biometry were performed consecutively in 253 eyes scheduled for cataract surgery the next day. Lens opacities were evaluated with the Opacity Lensmeter (Interzeag), and a slitlamp examination and measurement of visual acuity were performed. The 2 techniques were compared in terms of the rate of and reasons for primary measurement failure. Results Measurement with the IOLMast…
Visual-motion suppression in congenital pendular nystagmus.
2009
Patients with a congenital pendular nystagmus are known not to experience oscillopsia in a normal visual environment. The data of a 31-year-old female patient suffering from a congenital pendular nystagmus are presented. The aim of the fluorodeoxyglucose positron emission tomography (FDG-PET) experiment was to analyze the regional cerebral glucose metabolism (rCGM) during minimal as well as maximal nystagmus. Video-oculography showed a maximum in frequency of the horizontal pendular nystagmus during gaze to the left, whereas the zone of minimal nystagmus was 10 degrees to the right. Two sessions with an 18F-fluorodeoxyglucose tracer were performed to analyze cerebral blood-glucose utilizati…
Anatomical correlates of ocular motor deficits in cerebellar lesions
2009
Humans are able to stabilize the images of moving targets on the retina by means of smooth pursuit eye movements. After the pontine level, all smooth pursuit pathways pass through the cerebellum. Previous animal studies gave evidence that two specific lesion sites within the cerebellum cause smooth pursuit disorders: those of the flocculus/paraflocculus and the vermis including lobule VI, VII, the uvula and the deep cerebellar nuclei. To date, there have been only a few lesion studies in patients with smooth pursuit disorders that do not allow direct comparison with a control group. In the present study, new lesion mapping techniques determined which cerebellar structures were involved in p…
Survival After Transplantation of Corneas From a Rabies-Infected Donor
2011
To examine the tissue samples of 2 corneal recipients from a rabies-infected donor for the presence of rabies to explain their survival.Interventional case series with a review of the literature. The explanted corneal donor buttons were examined via nested reverse transcriptase polymerase chain reaction. The patients were followed up ophthalmologically and neurologically. Antirabies antibodies were measured in blood samples, and skin biopsies were examined by direct fluorescent antibody staining.Two patients received corneas from the same multiorgan donor. Six weeks after transplantation, 3 of the donor's organ recipients became symptomatic and rabies virus was confirmed in tissue from the …