Search results for "Genetic Structures"
showing 10 items of 2107 documents
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
2015
Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal coloboma…
Neuromuscular function and balance of prepubertal and pubertal blind and sighted boys
2006
Aim: To compare the neuromuscular function and balance of blind prepuberty- and puberty-aged boys to those with normal sight. Methods: Thirty-three prepubertal (aged 9–13 y) and pubertal (aged 15–18 y) blind and sighted boys were tested for muscle mass thickness, electromyography and maximal isometric strength, dynamic explosive actions, and balance. Results: There was no difference in the muscle mass thickness, maximal strength or vertical jump between the blind and sighted boys. However, fitness-ball throwing and five-jump distances were significantly shorter in both blind groups compared to the sighted groups. One-leg stance of the prepuberty-aged sighted boys was 109 (67) s and in blind…
Serum vitamin E levels negatively correlate with severity of age-related macular degeneration.
1999
Age-related macular degeneration (AMD) pathogenesis has been related to UV radiation and other factors that may promote increased oxidative damage to the retina. Patients with different AMD grading (n = 25) were compared with an age-matched group of AMD-free subjects (n = 15), both groups older than 60 years. A modification of the AMD grading system is proposed that allows patient grading and not single eye grading. AMD patients showed statistically significant lower serum levels of vitamin E and Zn than AMD-free subjects. Moreover, a negative correlation (Spearman's correlation coefficient r = -0.815, P < 0.001) could be established between AMD grading of both the patients' eyes and serum …
Electroretinographic response in WAG/Rij rats after low-intensity cyclic light exposure.
1993
In order to investigate the combined influence of age and light, the b-wave and oscillatory potentials (OPs) of the electroretinogram (ERG) were recorded in 1.5-, 7- and 12-month-old WAG/Rij rats, reared under homogenous low-intensity cyclic light exposure. Wistar albino rats of the same ages, reared under the same conditions, served as controls. The b-wave amplitude decreased, and its implicit time increased in the older age groups significantly more in WAG/Rij than in Wistar rats. Statistical analysis indicated that the b-wave amplitude is a more suitable parameter than implicit time in differentiating the ERG variations of one rat strain from the other. The added amplitude of the OPs als…
Chronic alcohol feeding induces biochemical, histological, and functional alterations in rat retina.
2008
Aims: Ethanol consumption originates a wide spectrum of disorders, including alteration of visual function. Oxidative stress is included among the mechanisms by which alcohol predisposes nervous tissue to injury. Retina, which is the neurosensorial eye tissue, is particularly sensitive to oxidative stress. Methods: In this study we analyze the effect of long-term alcohol consumption on oxidative stress parameters of the rat retina, and its correlation to retinal function, as well as to the expression of the antiapoptotic protein Bcl-2. We also study the protective effect of ebselen, a synthetic selenoorganic antioxidant. Results: Herein we show that ethanol has a toxic effect on rat retina …
Early lipoic acid intake protects retina of diabetic mice
2008
The aim of this study was to test the effect of lipoic acid treatment on the retina after a short diabetic insult. Diabetes was induced by alloxan and mice were divided into sub-groups; control, diabetic, diabetic+insulin and all groups received+/-lipoic acid (100 mg/kg body weight) for 3 weeks. GSH content, MDA concentration, GPx activity were measured and electroretinograms (ERG) were recorded. Early administration of lipoic acid to diabetic mice prevented the statistically significant decreases of GSH content and GPx activity and normalized MDA concentration. Moreover, lipoic acid restored electroretinogram b-wave amplitude of diabetic animals to control values. Lipoic acid has a protect…
Diagnostic accuracy of nonmydriatic fundus photography for the detection of glaucoma in diabetic patients.
2015
Purpose. To determine the diagnostic accuracy for glaucoma of a set of criteria with nonmydriatic monoscopic fundus photography (NMFP) in diabetics. Methods. Diabetics recruited from a screening program for diabetic retinopathy and diabetic glaucoma patients recruited from our glaucoma unit were included. Any patient with evidence of diabetic retinopathy was excluded. Diabetic patients had to have no visual field defects to be included as controls. Glaucoma patients had to have a glaucomatous field defect in at least one eye to be included. One NMFP was taken per eye for all subjects. These photographs were evaluated by two masked glaucoma specialists for the presence of the following: bila…
Anterior Segment Biometry and Their Correlation with Corneal Biomechanics in Caucasian Children.
2018
Purpose: To assess the relationship between the corneal biomechanical parameters and the anterior segment parameters in Caucasian children. Methods: This study included 293 eyes from 293 healthy children aged between 6 and 17 years. Corneal hysteresis (CH) and corneal resistance factor (CRF) were evaluated with the Ocular Response Analyzer, axial length (AL) with IOLMaster and the anterior segment with Pentacam. Anterior segment parameters obtained were the following: central corneal thickness (CCT), corneal volume (CV), anterior chamber depth (ACD), anterior chamber volume (ACV) and mean anterior and posterior keratometry. Two multiple linear regression models were constructed to assess th…
Optic Nerve Decompression Improves Hemodynamic Parameters in Papilledema
1993
Purpose: The purpose of this study is to examine changes in color Doppler imaging parameters before and after optic nerve sheath decompression (ONSD) for chronic papilledema caused by pseudotumor cerebri (PTC). Methods: Color Doppler imaging was performed within 48 hours before surgery and within 48 hours after the procedure using a color Doppler unit with a 7.5-MHz phased linear transducer. Pulsed Doppler spectrum analyses were recorded digitally on videotape from the ophthalmic, central retinal, and short posterior ciliary arteries, using a 0.4 × 0.6-mm sample volume. Results: Blood flow velocities in the ophthalmic, short posterior ciliary, and central retinal arteries of 24 eyes were si…
Color Doppler Imaging of Arterial Blood Flow in Central Retinal Vein Occlusion
1994
Purpose: The hemodynamics of the retrobulbar arterial circulation of patients with central retinal vein occlusion were evaluated in order to better understand the pathophysiology of this disease. Methods: Color Doppler imaging was used to measure the peak systolic velocity and vascular resistance (pulsatility index) in the retrobulbar arteries of involved eyes and clinically healthy fellow eyes of patients with central retinal vein occlusion and in the control eyes of age- and sex-matched healthy volunteers. Results: Average peak systolic velocity was significantly lower and average vascular resistance was significantly higher in the central retinal artery of involved eyes of patients with …