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1.
Invest Ophthalmol Vis Sci ; 64(13): 17, 2023 10 03.
Article in English | MEDLINE | ID: mdl-37819743

ABSTRACT

Purpose: To describe clinical and molecular findings of two families with X-linked optic atrophy and present two new pathogenic variants in the WDR45 gene. Methods: Case series and molecular analysis of two families of Jewish Ashkenazi descent with early onset bilateral optic atrophy. Whole-exome sequencing (WES) and bioinformatic analysis were performed, followed by Sanger sequencing and segregation analysis. Results: In both families, male siblings (three in family 1, two in family 2) had early-onset isolated bilateral optic atrophy. The sibling's healthy mother (and in the second family also one healthy sister) had a mild presentation, suggesting a carrier state and an X-linked inheritance pattern. All participants were otherwise healthy, apart from mild learning disabilities and autism spectrum disorder in two siblings of the second family. Variants in known optic atrophy genes were excluded. Analysis revealed a point variant in the WDR45 gene-a missense variant in the first family, NM_001029896.2:c.107C>A; NP_001025067.1:p.Pro36His (variant ID: 1704205), and a splice site variant in the second family, NM_001029896.2:c.236-1G>T; NP_009006.2:p.Val80Leu (variant ID: 1704204), located on Xp11.23 (OPA2 locus). Both variants are novel and predicted as pathogenic. In both families, the variant was seen with full segregation with the disease, occurring in all affected male participants and in one allele of the carrier females, as well as none of the healthy participants. Conclusions: Among two families with isolated X-linked optic atrophy, molecular analysis revealed novel variants in the WDR45 gene in full segregation with the disease. This gene resides within the OPA2 locus, previously described to associate with X-linked optic atrophy. Taken together, these findings suggest that certain pathogenic variants in the WDR45 gene are associated with isolated X-linked optic atrophy.


Subject(s)
Autism Spectrum Disorder , Genetic Diseases, X-Linked , Optic Atrophy , Female , Humans , Male , Genetic Diseases, X-Linked/genetics , Optic Atrophy/genetics , Optic Atrophy/pathology , Mutation, Missense , Pedigree , Mutation , Carrier Proteins/genetics
2.
Isr Med Assoc J ; 25(10): 669-672, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37846994

ABSTRACT

BACKGROUND: In recent years, major progress has been made in treating the wet form of age-related macular degeneration (AMD) with anti-vascular endothelial growth factors, which reportedly stabilize and improve vision. OBJECTIVES: To examine the effect of dietary supplementation, as recommended by the Age-Related Eye Disease Study 2 (AREDS2), on the number of anti-vascular endothelial growth factor injections administered to patients with wet AMD. METHODS: A retrospective study was conducted with 57 participants (27 participants in the study group and 30 in the control group) receiving injections of anti-vascular endothelial growth factors. The study group received dietary supplements for at least one year before the treatment was initiated, while the control group did not. Primary outcome was the number of injections a patient received over a 3-year period. Secondary outcomes were central macular thickness and visual acuity. RESULTS: The average number of injections per patient after 3 years was 21.89 ± 7.85 in the study group and 26.00 ± 5.62 in the control group (P = 0.083). Final visual acuities were 0.45 ± 0.45 and 0.8 ± 0.73 (P = 0.09), and final central macular thicknesses were 288.26 ± 55.38 and 313.12 ± 107.36 (P = 0.38) in the study and control groups, respectively. CONCLUSIONS: The average number of injections after 3 years was lower in the study group, but this difference did not reach statistical significance. No statistically significant difference was found in final visual acuity or central macular thickness between the groups.


Subject(s)
Wet Macular Degeneration , Humans , Wet Macular Degeneration/drug therapy , Angiogenesis Inhibitors , Vascular Endothelial Growth Factor A/therapeutic use , Retrospective Studies , Endothelial Growth Factors/therapeutic use , Dietary Supplements , Intravitreal Injections , Treatment Outcome , Tomography, Optical Coherence
3.
Harefuah ; 162(2): 98-102, 2023 Feb.
Article in Hebrew | MEDLINE | ID: mdl-36916079

ABSTRACT

INTRODUCTION: Orbital dermoid cysts are benign choristomas that arise from the entrapment of ectodermal elements adjacent to the fetal bony suture lines. They are considered congenital, but not all are diagnosed at birth. They are the most common orbital tumors in children. While superficial dermoid cysts appear early in life, deep dermoid cysts remain clinically occult until adolescence or adulthood, when they enlarge and may cause proptosis, ocular and orbital symptoms, and even neurological symptoms. In addition, many deep orbital dermoid cysts present with chronic inflammation resulting from lipid leakage from the cysts. They pose a diagnostic and therapeutic challenge, require radiological imaging for planning the surgical approach and may be difficult to remove. Early diagnosis and complete surgical removal of the cysts are the recommended therapeutic approach. In this paper, we present a literature review of deep orbital dermoid cysts to provide useful guidance for their diagnosis and management.


Subject(s)
Dermoid Cyst , Orbital Neoplasms , Radiology , Child , Adolescent , Infant, Newborn , Humans , Adult , Dermoid Cyst/diagnostic imaging , Dermoid Cyst/surgery , Orbital Neoplasms/diagnostic imaging , Orbital Neoplasms/surgery , Inflammation , Tomography, X-Ray Computed
4.
J Neuroophthalmol ; 42(4): 483-488, 2022 12 01.
Article in English | MEDLINE | ID: mdl-36255113

ABSTRACT

BACKGROUND: A multitude of terms have been used to describe automated visual field abnormalities. To date, there is no universally accepted system of definitions or guidelines. Variability among clinicians creates the risk of miscommunication and the compromise of patient care. The purposes of this study were to 1) assess the degree of consistency among a group of neuro-ophthalmologists in the description of visual field abnormalities and 2) to create a consensus statement with standardized terminology and definitions. METHODS: In phase one of the study, all neuro-ophthalmologists in Israel were asked to complete a survey in which they described the abnormalities in 10 selected automated visual field tests. In phase 2 of the study, the authors created a national consensus statement on the terminology and definitions for visual field abnormalities using a modified Delphi method. In phase 3, the neuro-ophthalmologists were asked to repeat the initial survey of the 10 visual fields using the consensus statement to formulate their answers. RESULTS: Twenty-six neuro-ophthalmologists participated in the initial survey. On average, there were 7.5 unique descriptions for each of the visual fields (SD 3.17), a description of only the location in 24.6% (SD 0.19), and an undecided response in 6.15% (SD 4.13). Twenty-two neuro-ophthalmologists participated in the creation of a consensus statement which included 24 types of abnormalities with specific definitions. Twenty-three neuro-ophthalmologists repeated the survey using the consensus statement. On average, in the repeated survey, there were 5.9 unique descriptions for each of the visual fields (SD 1.79), a description of only the location in 0.004% (SD 0.01), and an undecided response in 3.07% (SD 2.11%). Relative to the first survey, there was a significant improvement in the use of specific and decisive terminology. CONCLUSIONS: The study confirmed a great degree of variability in the use of terminology to describe automated visual field abnormalities. The creation of a consensus statement was associated with improved use of specific terminology. Future efforts may be warranted to further standardize terminology and definitions.


Subject(s)
Ophthalmologists , Visual Fields , Humans , Consensus , Visual Field Tests , Surveys and Questionnaires
5.
Harefuah ; 161(8): 523-525, 2022 Aug.
Article in Hebrew | MEDLINE | ID: mdl-35979573

ABSTRACT

INTRODUCTION: Alzheimer's disease is a neurodegenerative disease pathologically characterized by accumulation of abnormal amyloid-beta (Aß) and tau proteins. Research is currently focused on developing treatments to reduce the risk of developing or inhibiting disease progression. Therefore, there is a need to identify diagnostic tools for the initial stages of the disease. The neuropathological processes in Alzheimer's disease exist several decades before symptoms appear and can be identified by PET imaging or CSF analysis. Still, these methods are limited in availability and may be expensive and invasive, and there is therefore a need to develop accessible, inexpensive and non-invasive diagnostic tools. The retina is a component of the central nervous system. Changes in the retina can reflect the cerebral pathological process in Alzheimer's disease. Indeed, evidence of Aß plaques and abnormal tau proteins in the retina of Alzheimer's patients has been reported. The advantage of the retina is its accessibility for direct visualization by existing and non-invasive means. The following review will examine retinal changes that are suggested as possible biomarkers for Alzheimer's disease and discuss directions for future research in the field.


Subject(s)
Alzheimer Disease , Neurodegenerative Diseases , Alzheimer Disease/diagnosis , Amyloid beta-Peptides/metabolism , Biomarkers , Early Diagnosis , Humans , Neurodegenerative Diseases/metabolism , Neurodegenerative Diseases/pathology , Retina/diagnostic imaging , Retina/metabolism , Retina/pathology , tau Proteins/metabolism
6.
Int Ophthalmol ; 41(10): 3497-3503, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34129140

ABSTRACT

PURPOSE: To assess the surgical outcomes of reoperations for residual and recurrent esotropia. METHODS: A retrospective chart review of all patients who underwent surgery during 2000-2017 at a tertiary referral medical center for recurrent or residual esotropia was conducted. Patients who underwent bilateral medial rectus recession as primary surgery and lateral rectus resection as second surgery were included. The success rate of second surgery and its association to various factors were examined. Success of reoperation was defined as mean deviation of < 10 prism diopters (= PD) at last follow-up. RESULTS: Twenty-seven patients with mean post-operative follow-up of 50.4 ± 31.7 months were included. On last follow-up examination, 15 (55.6%) patients had a successful reoperation and 12 (44.4%) patients had unsuccessful reoperation. The two groups were similar in the pre-operative amount of esotropia for distance and near. On last follow-up examination, the amount of mean deviation was 1.9 PD esotropia (8 PD exotropia to 9 PD esotropia) in the success group and 11.2 PD esotropia (22.5 PD exotropia to 35 PD esotropia) in the failure group. In the failure group, 75.0% of patients were under-corrected (esotropia of ≥ 10 PD) on last follow-up examination. CONCLUSION: Strabismus reoperation in cases of residual or recurrent esotropia was successful in slightly more than half of the patients. Surgical failure was more commonly associated with undercorrection and less with overcorrection.


Subject(s)
Esotropia , Exotropia , Esotropia/surgery , Exotropia/surgery , Follow-Up Studies , Humans , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures , Retrospective Studies , Treatment Outcome , Vision, Binocular
7.
Int Ophthalmol ; 41(4): 1233-1240, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33389423

ABSTRACT

PURPOSE: The aim of this study was to employ newly developed advanced image analysis software to evaluate changes in retinal layer thickness following hemodialysis. METHODS: A non-randomized prospective study of patients with end-stage renal disease assessed on the same day before and after hemodialysis. Intraocular pressure and central corneal thickness were analyzed, and spectral domain optical coherence tomography results were automatically segmented using the Orion software and then compared. All patients had normal retinal optical coherence tomography findings before hemodialysis. RESULTS: Of the 31 suitable end-stage renal disease patients treated with hemodialysis who provided consent to participate, seven were unable to complete all evaluations, leaving 24 patients for analysis in the final study group. Their mean age was 66.67±14.3 years (range: 35-88), and 62.5% were males. Mean central corneal thickness did not change following hemodialysis (563.4±30.2 µm to 553.1±47.2 µm, p=.247), while mean intraocular pressure decreased (14.48±2.5 mmHg to 13.16±2.28 mmHg, p=.028). Individual mean retinal layer thickness showed no significant change, including the retinal nerve fiber layer (40.9±6.8 µm to 40.1±5.2 µm, p=.412), the ganglion cell and the inner plexiform layer (68.66±8 µm to 69.03±7.6 µm, p=.639), and the photoreceptor layer (50.26±2.8 µm to 50.32±3.1 µm, p=.869). Total retinal thickness similarly remained constant, with a mean of 303.7±17.3 µm before and 304.33±18.4 µm after hemodialysis (p=.571). CONCLUSIONS: Thickness of retinal layers, as assessed by individual segmentation, and central corneal thickness were not affected by hemodialysis treatment, while intraocular pressure was significantly reduced among patients with end-stage renal disease without pre-existing ocular pathology who were undergoing hemodialysis. These results support the view that hemodialysis does not have a negative impact on the retinal morphology of end-stage renal disease patients, who comprise a population with high rates of diabetic and/or hypertensive retinopathy as well as vision-threatening complications.


Subject(s)
Retina , Tomography, Optical Coherence , Aged , Aged, 80 and over , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Prospective Studies , Renal Dialysis/adverse effects , Retina/diagnostic imaging
8.
Ophthalmic Res ; 64(3): 476-482, 2021.
Article in English | MEDLINE | ID: mdl-33221809

ABSTRACT

INTRODUCTION: We have recently shown that defects in interdigitation and ellipsoid zones (IZ and EZ) can predict response to anti-VEGF therapy in a small group of treatment-naive diabetic macular edema (DME) patients. The aim of the current study is to further evaluate this association in a larger study group of patients over a longer follow-up time. METHODS: Thirty eyes of 30 treatment-naive DME patients were analyzed in this retrospective study. The integrity of foveal IZ and EZ was evaluated using optical coherence tomography at the diagnosis of DME and following anti-VEGF injections. The defect size was correlated with best-corrected visual acuity (BCVA) and central macular thickness (CMT). RESULTS: The mean patients' age at baseline was 63.0 ± 10.0 years. Patients underwent 3.9 ± 2.9 anti-VEGF injections for a mean of 9.1 ± 4.8 months. Following treatment, the mean Snellen visual acuity (VA) improved from 20/52 to 20/44 (p = 0.05), CMT decreased from 432.5 ± 141.4 µm to 375.2 ± 121.4 µm (p = 0.05) and IZ/EZ defect size decreased from 259.83 ± 375.94 µm to 65.34 ± 143.97 µm (p = 0.001). In patients with no IZ/EZ defects at baseline, the mean Snellen VA was better when compared to those with IZ/EZ defects (20/36 vs. 20/70, p = 0.031). The number of eyes with IZ/EZ defects decreased from 17 (57%) at baseline to 6 (20%) at end of follow-up (p < 0.01). BCVA gain correlated with IZ/EZ defect size reduction (r = 0.41, p = 0.02) but not with improvement in CMT (r = 0.28, p = 0.121). CONCLUSIONS: IZ/EZ defect size correlated not only with baseline BCVA but also predicted the change in BCVA after anti-VEGF treatment. Possible future automatic measurement of IZ/EZ defect size might prove helpful for the evaluation of treatment response.


Subject(s)
Diabetic Retinopathy , Macular Edema , Aged , Diabetic Retinopathy/diagnosis , Diabetic Retinopathy/drug therapy , Humans , Intravitreal Injections , Macular Edema/diagnosis , Macular Edema/drug therapy , Middle Aged , Retrospective Studies , Tomography, Optical Coherence , Visual Acuity
9.
Exp Eye Res ; 201: 108290, 2020 12.
Article in English | MEDLINE | ID: mdl-33022269

ABSTRACT

Recent studies highlight the importance of the temporal domain in visual processing. Critical Flicker Frequency (CFF), the frequency at which a flickering light is perceived as continuous, is a widely used measure for evaluating visual temporal processing. Another important issue to investigate is the cortical interactions arising between the flicker stimuli of both eyes. This paper presents a robust and reliable dichoptic tool for evaluating the CFF threshold in both eyes. This system is based on an analog output device used to independently drive two LEDs through a custom-written MATLAB code (using a laptop PC) for eliciting sinusoidal flickering stimuli and for psychophysically measuring the perceived CFF threshold. The luminance and phases of each LED are individually controlled, enabling the investigation of the effect of phase and luminance differences on binocular summation in subjects with different ocular pathologies. Experiments were designed to evaluate the CFF threshold through a psychophysical test, based on a discrimination task with a stimulus duration of 1 s, based on a temporal alternative forced-choice paradigm. The target stimulus temporal features were modulated using the staircase method. Subjects were requested to discriminate between a target stimulus (a flickering light at various frequencies) and a flickering light at a frequency of 120 Hz, which is significantly higher than the CFF in humans; therefore, it is perceived as constant. One of the main advantages of the introduced dichoptic presentation system is that it enables the visual temporal performance to be measured under both monocular and binocular conditions where phenomena such as temporal binocular summation (BS) can be evaluated. Moreover, the system offers great flexibility by introducing a stimulus phase shift, which enables studying how stimulus timing affects the temporal function at millisecond scale resolution. Our results confirm that no crosstalk exists between the eyes and that the system can reliably separate the stimuli presented to the eyes. Using this set-up, we observed the binocular summation of CFF for low target luminance levels. The CFF was significantly (p = 0.011) higher (5.2%) under binocular compared with monocular viewing conditions. More importantly, introducing an inter - ocular phase shift reduced the binocular CFF in normally sighted subjects. Finally, in amblyopic subjects the amblyopic eye showed a decrease of 3.9 Hz (15%) in CFF, compared with the fellow eye (p = 0.001). The ability to assess binocular temporal performance using a dichoptic display can shed light on visual temporal performance in general, and on binocular temporal summation processes in particular, both for subjects with normal binocular vision and for subjects with impaired binocular vision (e.g., amblyopic subjects). Furthermore, such a presentation set-up may facilitate the development of training paradigms aimed at improving binocular vision performance. In this paper we describe the system and methods in detail and provide all necessary computer code and other details that will enable an easy and quick adaptation of the method by scientists interested in studying the temporal resolution of the visual system in general, and in studying inter-ocular differences or interactions in particular.


Subject(s)
Amblyopia/diagnosis , Psychophysics/methods , Sensory Thresholds/physiology , Vision, Binocular/physiology , Visual Acuity , Adult , Amblyopia/physiopathology , Female , Healthy Volunteers , Humans , Male , Photic Stimulation/methods
10.
Optom Vis Sci ; 97(8): 561-564, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32833401

ABSTRACT

SIGNIFICANCE: Amiodarone and dronedarone have recognized ophthalmological adverse effects including optic neuropathy. The recognition of optic neuropathy as a complication of amiodarone and dronedarone treatment may enable withdrawing the drug and accordingly preventing permanent vision loss. PURPOSE: This study aimed to describe a case of optic neuropathy after substitution of amiodarone with dronedarone for treatment of atrial fibrillation. CASE REPORT: An 81-year-old man treated with dronedarone for atrial fibrillation after amiodarone had caused tremor developed sequential permanent vision loss in both eyes. CONCLUSIONS: The importance of timely recognition of optic neuropathy as a complication of amiodarone and dronedarone treatment may enable discontinuing the drug, thus preventing permanent vision loss.


Subject(s)
Amiodarone/adverse effects , Anti-Arrhythmia Agents/adverse effects , Atrial Fibrillation/drug therapy , Dronedarone/adverse effects , Optic Nerve Diseases/chemically induced , Vision Disorders/chemically induced , Aged, 80 and over , Drug Substitution , Humans , Male , Optic Nerve Diseases/diagnosis , Optic Nerve Diseases/physiopathology , Vision Disorders/diagnosis , Vision Disorders/physiopathology , Visual Acuity/physiology , Visual Fields/physiology
11.
Obes Surg ; 30(10): 3742-3746, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32458361

ABSTRACT

PURPOSE: The effect of body mass index (BMI) reduction following bariatric surgery on intraocular pressure (IOP) is not well established. We evaluated association between BMI reduction and IOP measurements and other ocular and metabolic parameters 1 year after bariatric surgery. MATERIALS AND METHODS: A retrospective study with over 1-year follow-up on patients who underwent weight reduction bariatric surgery between January 2016 and December 2016 at Wolfson Medical Center, Israel. Patient data was extracted from outpatient's bariatric and ocular clinic records. Metabolic, ocular, and clinical parameters were assessed including BMI changes, IOP, central corneal and retinal nerve fiber layer thickness, optical coherence tomography, and biometry results. RESULTS: Of 22 bariatric surgery patients, 15 underwent laparoscopic sleeve gastrectomy (LSG) and 7 laparoscopic mini gastric bypass (MGB). All were followed up for over 1 year after surgery. Average BMI decreased from 41.9 ± 7.3 to 25.5 ± 5.7 kg/m2 at 1-year follow-up (p < 0.001). Mean IOP decreased significantly by 21% after 1 year (p < 0.001). Decrease in IOP 1 year after surgery was correlated with decrease in IOP at 3-month follow-up (r = 0.677, p = 0.001), preoperative IOP (r = 0.837, p < 0.001), and corneal thickness (r = 0.589, p = 0.006), with no correlation between reduction in IOP and baseline weight, BMI, or the reduction in either (p > 0.05). Central corneal thickness and retinal nerve fiber layer thickness were also significantly decreased (p = 0.038) and (p = 0.018), respectively. CONCLUSION: BMI reduction achieved by bariatric surgery was associated with significant and continued decline in IOP beyond 1 year after surgery. Clinical implications highlight the importance of considering bariatric surgery in patients with ocular hypertension.


Subject(s)
Bariatric Surgery , Obesity, Morbid , Humans , Intraocular Pressure , Israel , Obesity, Morbid/surgery , Retrospective Studies
12.
J Child Neurol ; 34(9): 506-510, 2019 08.
Article in English | MEDLINE | ID: mdl-31046523

ABSTRACT

PTEN (Phosphatase and Tensin Homolog on chromosome TEN) encodes a vastly expressed tumor suppressor protein that antagonizes the PI3 K signaling pathway and alters the MTOR pathway. Mutations in PTEN have been described in association with a number of syndromes including PTEN hamartoma-tumor syndrome, macrocephaly/autism, and juvenile polyposis of infancy. Although there is a wide variability in the clinical and radiologic presentations of PTEN-related phenotypes, the most consistent features include macrocephaly and increased tumorigenesis. Intracranial hypertension may be idiopathic or secondary to multiple etiologies. We describe 2 siblings harboring a PTEN mutation who presented with macrocephaly and intracranial hypertension. Repeat brain MRIs were normal in both. Acetazolamide treatment normalized intracranial pressure, but several trials of medication tapering led to recurrence of intracranial hypertension symptoms. The clinical presentation of our patients expands the PTEN-related phenotypes. We discuss the possible pathophysiology in view of PTEN function.


Subject(s)
Intracranial Hypertension/complications , Intracranial Hypertension/genetics , Megalencephaly/complications , Megalencephaly/genetics , Mutation , PTEN Phosphohydrolase/genetics , Child , Child, Preschool , Humans , Intracranial Hypertension/drug therapy , Male , Phenotype , Siblings
13.
Exp Eye Res ; 145: 17-25, 2016 04.
Article in English | MEDLINE | ID: mdl-26554939

ABSTRACT

Apolipoprotein E4 (apoE4), the most prevalent genetic risk factor for Alzheimer's disease (AD), is associated with neuronal and vascular impairments. The retina, which is as an extension of the central nervous system (CNS), is a particularly suitable model for studying developmental and functional aspects of the neuronal and vascular systems. This study investigates the apoE4-dependent developmental effects on the retinal vasculature and neuronal systems and on the levels of apoE and the vascular endothelial growth factor (VEGF) in the retina. This was performed utilizing retinas of 4, 7, 12, and of 120-day-old human-apoE4-targeted replacement mice and of corresponding mice that express the AD benign isoform, apoE3. The results obtained revealed retinal vascular pathology in the apoE4 mice, which started on the early post-natal days. This includes transient increase in vascular branching, and vascular buds which are round vascular elements representing sprouting or retracting vessels. These effects peaked and ended during the neonatal period. Examination of the synaptic system utilizing the pre-synaptic marker synaptophysin revealed a significant decrease of retinal synaptic density in the apoE4 mice, which was detectable by post-natal day 12 (P12). These morphological changes are associated with neonatal age-dependent elevation in the apoE levels in both apoE3 and apoE4 retinas which is more profound in the apoE4 mice and a corresponding increase in VEGF levels, which is less profound in the apoE4 mice. Additionally, we observed lower levels of retinal VEGF in the apoE4 mice compared to the apoE3 mice retinas on P12. These results show that apoE4 has a transient vascular effect during retinal development that ends in the neonatal period, which is accompanied by a synaptic effect that begins at the end of the neonatal period. These findings show that the apoE4 genotype can have distinct developmental effects on both the retinal vasculature and on neurons and suggest that the vascular effects of apoE4 may be related to reduced levels of VEGF.


Subject(s)
Apolipoprotein E4/genetics , Retina/growth & development , Retinal Vessels/growth & development , Animals , Animals, Newborn , Apolipoprotein E4/metabolism , Blotting, Western , Genotype , Humans , Male , Mice , Mice, Inbred C57BL , Microscopy, Confocal , Models, Animal , Retina/cytology , Retina/metabolism , Retinal Vessels/cytology , Retinal Vessels/metabolism
14.
Curr Alzheimer Res ; 12(4): 323-34, 2015.
Article in English | MEDLINE | ID: mdl-25817253

ABSTRACT

Apolipoprotein E4 (apoE4), the most prevalent genetic risk factor for Alzheimer's disease (AD), is associated with neuronal and vascular impairments. Recent findings suggest that retina of apoE4 mice have synaptic and functional impairments. We presently investigated the effects of apoE4 on retinal and choroidal vasculature and the possible role of VEGF in these effects. There were no histological differences between the retinal and choroidal vasculatures of naïve apoE3 and apoE4 mice. In contrast, laserdriven choroidal injury induced higher levels of choroidal neovascularization (CNV) in apoE4 than in apoE3 mice. These effects were associated with an inflammatory response and with activation of the Muller cells and asrocytic markers gluthatione synthetase and GFAP, all of which were more pronounced in the apoE4 mice. CNV also induced a transient increase in the levels of the synaptic markers synaptophysin and PSD95 which were however similar in the apoE4 and apoE3 naive mice. Retinal and choroidal VEGF and apoE levels were lower in naïve apoE4 than in corresponding apoE3 mice. In contrast, VEGF and apoE levels rose more pronouncedly following laser injury in the apoE4 than in apoE3 mice. Taken together, these findings suggest that the apoE4-induced retinal impairments, under basal conditions, may be related to reduced VEGF levels in the eyes of these mice. The hyper-neovascularization in the apoE4 mice might be driven by increased inflammation and the associated surge in VEGF following injury. Retinal and choroidal VEGF and apoE levels were lower in naïve apoE4 than in corresponding apoE3 mice. In contrast, VEGF and apoE levels rose more pronouncedly following laser injury in the apoE4 than in apoE3 mice. Taken together, these findings suggest that the apoE4-induced retinal impairments, under basal conditions, may be related to reduced VEGF levels in the eyes of these mice. The hyper-neovascularization in the apoE4 mice might be driven by increased inflammation and the associated surge in VEGF following injury.


Subject(s)
Apolipoprotein E4/metabolism , Choroid/pathology , Retina/pathology , Synapses/pathology , Vascular Endothelial Growth Factor A/metabolism , Alzheimer Disease , Animals , Apolipoprotein E3/genetics , Apolipoprotein E3/metabolism , Apolipoprotein E4/genetics , Astrocytes/pathology , Astrocytes/physiology , Choroid/blood supply , Choroid/physiopathology , Choroidal Neovascularization/metabolism , Choroidal Neovascularization/pathology , Disease Models, Animal , Ependymoglial Cells/pathology , Ependymoglial Cells/physiology , Glial Fibrillary Acidic Protein/metabolism , Mice, Inbred C57BL , Mice, Transgenic , Retina/physiopathology , Retinal Neovascularization/metabolism , Retinal Neovascularization/pathology , Retinal Vessels/pathology , Retinal Vessels/physiopathology , Synapses/physiology
15.
Clin Ophthalmol ; 7: 573-80, 2013.
Article in English | MEDLINE | ID: mdl-23658475

ABSTRACT

OBJECTIVE: To describe two rare cases of concurrent vision loss and external ophthalmoplegia following powered endoscopic sinus surgery (ESS). DESIGN: Observational case report. RESULTS: The records of two patients who underwent powered ESS and developed multiple concurrent ophthalmic complications were retrospectively reviewed for clinical history, neuro-ophthalmologic examination, and imaging findings. Patient 1 developed a retinal vascular occlusion and complete loss of adduction. Patient 2 developed an orbital hemorrhage, optic neuropathy, and a restrictive global ophthalmoplegia. Similar published case reports were also reviewed. CONCLUSION: Despite advances in powered ESS technique and instrumentation, serious ophthalmic complications can still occur. Inadvertent entry into the medial orbital wall can result in a combination of blindness and ocular motility dysfunction. The variety of mechanisms responsible for these complications underscores the importance of thorough pre- and postoperative clinical examination and review of imaging studies.

16.
Clin Exp Ophthalmol ; 40(6): 617-25, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22172228

ABSTRACT

BACKGROUND: To investigate the role of inflammation in age-related macular degeneration by measuring the levels of cytokines in the aqueous humour. METHODS: Samples of aqueous humour were collected from 34 patients with age-related macular degeneration and 16 age-matched control subjects undergoing cataract surgery. Age-related macular degeneration stage was determined clinically, before surgery. Levels of cytokines were measured using Luminex X-MAP technology, and positive results were verified by Western blot. RESULTS: Age-related macular degeneration was moderate in 18 patients and advanced in 16. The advanced age-related macular degeneration group was further divided into patients with active choroidal neovascularization (n = 7), disciform scar (n = 7) or central geographic atrophy (n = 2). Higher-than-normal levels of monocyte chemoattractant protein-1 in the aqueous humour were associated with advanced age-related macular degeneration (200 ± 140 pg/mL vs. 100 ± 61 pg/mL; P = 0.03), especially active choroidal neovascularization (255 ± 155 pg/mL; P = 0.02), Western blot analysis verified the monocyte chemoattractant protein-1 findings. Patients with disciform scar showed a trend of abnormally high levels of interleukin-12 (p70) (1.7 ± 2.4 pg/mL vs. 0.2 ± 1 pg/mL; P = 0.07), tumour necrosis factor-α (1.8 ± 2.4 pg/mL vs. 0.3 ± 1 pg/mL; P = 0.06) and interleukin-12 (4.7 ± 6.4 pg/mL vs. 1.2 ± 2.1 pg/mL; P = 0.08). CONCLUSION: Elevated levels of inflammation-related cytokines in the aqueous humour in various stages of age-related macular degeneration may suggest a pathogenic role of inflammation. Monocyte chemoattractant protein-1 may be indicative of the angiogenic phase. Further corroborative studies are required.


Subject(s)
Aqueous Humor/metabolism , Chemokine CCL2/metabolism , Macular Degeneration/metabolism , Aged , Aged, 80 and over , Blotting, Western , Cataract Extraction , Female , Humans , Immunoassay/methods , Male
17.
Invest Ophthalmol Vis Sci ; 52(7): 4929-34, 2011 Jul 01.
Article in English | MEDLINE | ID: mdl-21467179

ABSTRACT

PURPOSE: To assess the effects of NDM from cranberries on Staphylococcus epidermidis biofilm formed on soft contact lenses. METHODS: Soft contact lenses were incubated in Tryptic Soy Broth (TSB) together with S. epidermidis (ATCC35984/RP62A) and various concentrations of NDM, and inspected by scanning electron and confocal microscopy. The TSB was collected after sonification and monitored turbidometrically. RESULTS: NDM at ≥500 µg/mL concentration caused a significant (P < 0.01) reduction of biofilm. Scanning electron microscopy of biofilm in the presence of 500 to 1000 µg/mL NDM confirmed these results. In control lenses, multilayered mushroom-shaped biofilm and complete coverage of the lens surface were seen, whereas after incubation with 500 µg NDM per mL TSB, the biofilm was thinner with smaller protuberances, and exposed lens surface was partially seen. In samples incubated with 1000 µg NDM per mL TSB, the lens surface was clearly seen between sporadic microcolonies. CONCLUSIONS: NDM reduces formation of biofilm on soft contact lenses. This has important implications for the prevention of contact lens-related corneal infections caused by S. epidermidis.


Subject(s)
Biofilms , Contact Lenses, Hydrophilic/microbiology , Eye Infections, Bacterial/prevention & control , Plant Extracts , Staphylococcal Infections/prevention & control , Staphylococcus epidermidis/physiology , Vaccinium macrocarpon , Bacterial Adhesion , Colony Count, Microbial , Eye Infections, Bacterial/microbiology , Eye Infections, Bacterial/pathology , Humans , Microscopy, Confocal , Microscopy, Electron, Scanning , Staphylococcal Infections/microbiology , Staphylococcal Infections/pathology , Staphylococcus epidermidis/drug effects
18.
Arch Environ Occup Health ; 64(2): 137-40, 2009.
Article in English | MEDLINE | ID: mdl-19395346

ABSTRACT

The authors report on a case of bilateral pterygia that the Israeli Social Security Service acknowledged to be an occupational disease. The question of whether certain occupations are risk factors for pterygia has important medico-legal implications. The authors sought to shed more light on this issue through a case report of bilateral simultaneous pterygia in an Israeli tennis instructor and through a literature review. Results indicate that most studies show a strong relation between pterygia formation and outdoor work with exposure to UV rays. Also, the patient refused to use protective eyewear during his long outdoor working hours and, by doing so, exposed his eyes to excessive sunlight, which led to occupational disease.


Subject(s)
Occupational Diseases/classification , Pterygium/etiology , Radiation Injuries/etiology , Ultraviolet Rays/adverse effects , Humans , Male , Middle Aged , Occupational Diseases/etiology
19.
Retina ; 28(6): 839-46, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18536600

ABSTRACT

PURPOSE: To examine the anatomical and refractive outcomes of infrared diode laser photocoagulation (DLPC) for the treatment of threshold retinopathy of prematurity (ROP). METHODS: The charts of all consecutive premature neonates with ROP treated by DLPC at our tertiary center from December 1, 1996, to December 31, 2004, were reviewed. RESULTS: The group included 100 neonates (194 eyes) with a mean birth weight +/- SD of 833.9 +/- 250.3 g and a mean gestational age +/- SD of 26 +/- 1.9 weeks. Sixty-two percent of neonates had zone I or posterior zone II ROP. Each eye received a mean +/- SD of 1,740 +/- 990 laser applications, and 21% of eyes received an additional 1 to 2 rows posterior to the ridge. Neonates treated after December 2003 (cutoff date of the Early Treatment of Retinopathy of Prematurity study) underwent a significantly greater number of laser applications (mean +/- SD, 2,286 +/- 1,087) than did neonates treated earlier. Anatomical results of laser treatment were favorable for 179 eyes (92.3%) at a mean follow-up +/- SD of 33.6 +/- 27.2 months. After vitreoretinal surgery, partial or total retinal detachment was documented for 2.5% of patients who received posterior-to-the-ridge laser treatment and 3.8% of patients treated only on the avascular retina. Refractive data were available for 134 eyes: 55.2% had myopia of -5 diopters (31.3%) or greater (23.9%). Strabismus was found in 21 (28.8%) of 73 neonates tested. Gestational age was correlated with corrected age at treatment, zone of ROP, number of laser applications, and spherical equivalent. Snellen visual acuity of 6/12 or more occurred in 17 of 24 patients who complied with testing. CONCLUSION: DLPC is a safe and effective treatment for ROP. Neonates of lower gestational age and birth weight require earlier and more aggressive laser treatment and may have a higher refractive error.


Subject(s)
Laser Coagulation , Lasers, Semiconductor/therapeutic use , Refraction, Ocular/physiology , Retinopathy of Prematurity/surgery , Visual Acuity/physiology , Gestational Age , Humans , Infant, Low Birth Weight , Infant, Newborn , Postoperative Complications , Retina/physiopathology , Retinopathy of Prematurity/classification , Retinopathy of Prematurity/physiopathology , Treatment Outcome
20.
Cornea ; 24(1): 110-1, 2005 Jan.
Article in English | MEDLINE | ID: mdl-15604877

ABSTRACT

PURPOSE: To report a case of bilateral corneal graft dehiscence caused by blunt trauma. METHODS: Case report of bilateral simultaneous corneal graft dehiscence with expulsion of the lens and iris as a result of airbag-induced trauma. RESULTS: Both corneal buttons were resutured, the prolapsed iris tissue was repositioned in the right eye, and anterior vitrectomy was performed bilaterally. Topical and systemic antibiotics, topical steroids, cycloplegic agents, and antiglaucoma drugs were initiated. Repeated B-scan ultrasound examinations demonstrated an attached retina in both eyes. Three weeks after admission, the right eye was reoperated for removal of remnant lens material and additional anterior vitrectomy. The patient was fitted with polycarbonate spectacles with an optical correction of +8 in both eyes. Visual acuity improved to 20/200 and 0.5/60 in the right and left eyes, respectively. The right corneal graft regained transparency, but the left one remained hazy. CONCLUSION: Airbag deployment during motor vehicle collisions is a significant cause of ocular morbidity. The reported risk of airbag-related eye injury is 2.5% for any eye injury and 0.4% for severe eye injury. Patients undergoing corneal surgery should be counseled about the weakness of the donor-recipient interface and should consider wearing protective glasses.


Subject(s)
Air Bags/adverse effects , Corneal Injuries , Eye Injuries/etiology , Keratoplasty, Penetrating , Surgical Wound Dehiscence/etiology , Accidents, Traffic , Eye Injuries/surgery , Humans , Iris Diseases/etiology , Iris Diseases/surgery , Lens Diseases/etiology , Lens Diseases/surgery , Male , Middle Aged , Prolapse , Rupture , Surgical Wound Dehiscence/surgery , Tomography, X-Ray Computed
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