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Eye Diseases - Top 30 Publications

How Medicare Could Provide Dental, Vision, and Hearing Care for Beneficiaries.

The Medicare program specifically excludes coverage of dental, vision, and hearing services. As a result, many beneficiaries do not receive necessary care. Those that do are subject to high out-of-pocket costs.

Iris Abscess.

Case report repairing orbital skin defects using composite flaps after giant eyelid-derived tumor excision and orbital exenteration.

Though giant malignant tumors arising in the eyelid are rare, they often require extensive surgery for removal along with orbital exenteration. Because of this, repairing orbital defects is an important factor in the surgical strategy.

Delayed onset of pressure-induced interlamellar stromal keratitis in a patient with recurrent uveitis: A case report.

Corticosteroid treatment for uveitis can lead to delayed-onset pressure-induced interlamellar stromal keratitis (PISK), even years after laser in situ keratomileusis (LASIK).A 35-year-old man presented to our clinic after experiencing blurred vision in his left eye for 1 month. For the past month, he had been prescribed topical steroid and anti-glaucomatous medication. He had undergone LASIK for both eyes 5 years earlier, and had suffered uveitis attacks in his left eye over the last 2 years.Slit-lamp examination revealed stromal haziness with interface fluid accumulation in the left eye. The left eye showed an intraocular pressure (IOP) of 35 mm Hg and visual acuity of 6/20. Anterior segment ocular coherence tomography (OCT) confirmed the diagnosis of PISK. Steroid treatment was tapered, and latanoprost treatment was started. One month later, the patient's symptoms resolved, with IOP reduced to 10 mm Hg and visual acuity increased to 6/6 in the left eye. Latanoprost treatment was discontinued to avoid potential uveitis reactivation, and the patient's visual field defect progressed and IOP rebounded. Due to evident glaucomatous damage, trabeculectomy was suggested but was refused.

Horner syndrome as a postoperative complication after minimally invasive video-assisted thyroidectomy: A case report.

Horner syndrome is an unusual complication after thyroidectomy.

Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.

Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus."

The impact of mild, moderate, and severe visual field loss in glaucoma on patients' quality of life measured via the Glaucoma Quality of Life-15 Questionnaire: A meta-analysis.

We performed a meta-analysis to determine the impact of mild, moderate, and severe visual field loss on quality of life (QoL) in patients with glaucoma.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.

Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.

The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.

Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder.

Sports-Related Eye Injuries.

New Therapeutic Perceptions in a Patient with Complicated Herpes Simplex Virus 1 Keratitis: A Case Report and Review of the Literature.

BACKGROUND Keratitis caused by herpes simplex virus (HSV) can have detrimental effects on the cornea leading to loss of vision. Modern therapies can contribute to the prevention of anatomical and functional damage. CASE REPORT An 80-year-old male with complicated HSV-1 keratitis of the left eye (confirmed diagnosis after microbiological investigation) presented three months after antiviral treatment with corneal blurring, severe epitheliopathy, thinning of the stroma, and neovascularization. At the time he was referred, the visual acuity of his left eye was very low, as he could only count fingers at a one-foot distance. He was initially started on oral acyclovir (800 mg once daily) and topical poly-carboxymethyl glucose sulfate; afterwards he underwent amniotic membrane (AM) transplantation and localized treatment with anti-VEGF factors. One month after the AM transplantation there was an obvious improvement of the corneal surface. Ophthalmic suspension of cyclosporine-A 1% was also added to his treatment. After three months, a transplantation of stem cells (deriving from the sclerocorneal junction of his right eye) was carried out at the sclerocorneal junction, as the corneal damage and neovascularization was more severe at this anatomical area. Four months after the last surgery, his visual acuity was 1/10 (note, he had a history of an old vascular episode) and the cornea was sufficiently clear with no signs of epitheliopathy and almost complete subsidence of the neovascularization. CONCLUSIONS Transplantation of AM and stem cells in combination with anti-VEGF factors and topical administration of cyclosporine-A 1% and poly-carboxymethyl glucose sulfate (a regenerative factor of corneal matrix) contributed substantially in the management of herpetic keratitis complications.

Vitamin D receptor expression is essential during retinal vascular development and attenuation of neovascularization by 1, 25(OH)2D3.

Vitamin D provides a significant benefit to human health, and its deficiency has been linked to a variety of diseases including cancer. Vitamin D exhibits anticancer effects perhaps through inhibition of angiogenesis. We previously showed that the active form of vitamin D (1, 25(OH)2D3; calcitriol) is a potent inhibitor of angiogenesis in mouse model of oxygen-induced ischemic retinopathy (OIR). Many of vitamin D's actions are mediated through vitamin D receptor (VDR). However, the role VDR expression plays in vascular development and inhibition of neovascularization by 1, 25(OH)2D3 remains unknown. Here using wild type (Vdr +/+) and Vdr-deficient (Vdr -/-) mice, we determined the impact of Vdr expression on postnatal development of retinal vasculature and retinal neovascularization during OIR. We observed no significant effect on postnatal retinal vascular development in Vdr -/- mice up to postnatal day 21 (P21) compared with Vdr +/+ mice. However, we observed an increase in density of pericytes (PC) and a decrease in density of endothelial cells (EC) in P42 Vdr -/- mice compared with Vdr +/+ mice, resulting in a significant decrease in the EC/PC ratio. Although we observed no significant impact on vessel obliteration and retinal neovascularization in Vdr -/- mice compared with Vdr +/+ mice during OIR, the VDR expression was essential for inhibition of retinal neovascularization by 1, 25(OH)2D3. In addition, the adverse impact of 1, 25(OH)2D3 treatment on the mouse bodyweight was also dependent on VDR expression. Thus, VDR expression plays a significant role during retinal vascular development, especially during maturation of retinal vasculature by promoting PC quiescence and EC survival, and inhibition of ischemia-mediated retinal neovascularization by 1, 25(OH)2D3.

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Rare germ-line mutations in the coding regions of the human EPHA2 gene (EPHA2) have been associated with inherited forms of pediatric cataract, whereas, frequent, non-coding, single nucleotide variants (SNVs) have been associated with age-related cataract. Here we sought to determine if germ-line EPHA2 coding SNVs were associated with age-related cataract in a case-control DNA panel (> 50 years) and if somatic EPHA2 coding SNVs were associated with lens aging and/or cataract in a post-mortem lens DNA panel (> 48 years). Micro-fluidic PCR amplification followed by targeted amplicon (exon) next-generation (deep) sequencing of EPHA2 (17-exons) afforded high read-depth coverage (1000x) for > 82% of reads in the cataract case-control panel (161 cases, 64 controls) and > 70% of reads in the post-mortem lens panel (35 clear lens pairs, 22 cataract lens pairs). Novel and reference (known) missense SNVs in EPHA2 that were predicted in silico to be functionally damaging were found in both cases and controls from the age-related cataract panel at variant allele frequencies (VAFs) consistent with germ-line transmission (VAF > 20%). Similarly, both novel and reference missense SNVs in EPHA2 were found in the post-mortem lens panel at VAFs consistent with a somatic origin (VAF > 3%). The majority of SNVs found in the cataract case-control panel and post-mortem lens panel were transitions and many occurred at di-pyrimidine sites that are susceptible to ultraviolet (UV) radiation induced mutation. These data suggest that novel germ-line (blood) and somatic (lens) coding SNVs in EPHA2 that are predicted to be functionally deleterious occur in adults over 50 years of age. However, both types of EPHA2 coding variants were present at comparable levels in individuals with or without age-related cataract making simple genotype-phenotype correlations inconclusive.

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC.

Intraocular Pressure Course During the Femtosecond Laser-Assisted Cataract Surgery in Porcine Cadaver Eyes.

Femtosecond laser-assisted cataract surgery (FLACS) is an increasingly common procedure. Most laser systems require corneal applanation and thereby increase intraocular pressure (IOP). The purpose of the present study was to evaluate the IOP changes that occur during the FLACS procedure performed using the Catalys femtosecond laser system.

Evaluation of Ganglion Cell-Inner Plexiform Layer Thinning in Eyes With Optic Disc Hemorrhage: A Trend-Based Progression Analysis.

To evaluate the rate of change in ganglion cell-inner plexiform layer (GCIPL) thickness measured by optical coherence tomography (OCT) using a trend-based approach in early-stage glaucomatous eyes with disc hemorrhage (DH) and to compare the GCIPL thinning rate with that in glaucomatous eyes without DH.

Crosstalk Between Histone and DNA Methylation in Regulation of Retinal Matrix Metalloproteinase-9 in Diabetes.

Diabetes activates matrix metalloproteinase-9 (MMP-9), and MMP-9 via damaging retinal mitochondria, activates capillary cell apoptosis. MMP-9 promoter has binding sites for many transcription factors, and in diabetes its promoter undergoes epigenetic modifications, including histone modifications and DNA methylation. Enhancer of Zeste homolog 2 (Ezh2), which catalyzes dimethylation/trimethylation of histone 3 lysine 27 (H3K27me2 and me3), is also associated with DNA methylation. Our aim was to investigate link(s) between histone and DNA modifications in the regulation of MMP-9.

Classification of optic disc shape in glaucoma using machine learning based on quantified ocular parameters.

This study aimed to develop a machine learning-based algorithm for objective classification of the optic disc in patients with open-angle glaucoma (OAG), using quantitative parameters obtained from ophthalmic examination instruments.

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results from two somatic mutations whereas bilateral retinoblastoma is heritable and results from one germline and one somatic mutation, both have high penetrance, 90%. The purpose of this study was to identify causative RB1 mutations in RB patients with different clinical presentations. A comprehensive approach was used to study a cohort of 34 patients with unilateral, bilateral and trilateral retinoblastoma. Blood and tumor DNA was analyzed by sequencing and multiplex ligation-dependent probe amplification (MLPA) assay. Validation of an insertion mutation was performed by cloning the PCR product. Most of the patients in our cohort had unilateral RB, eight patients had bilateral RB and one patient had a trilateral tumor with ocular and suprasellar/sellar locations. Other tumors in addition to retinoblastoma were also found in the affected families. One patient had two syndromes, retinoblastoma and schwannomatosis, and another RB patient had a father with a retinoma. Five out of the 25 unilateral RB patients carried germinal mutations (20%), which were mostly missense mutations. The bilateral and trilateral patients carried splice-site, nonsense and frameshift mutations as well as a whole RB1 gene deletion. Missense mutations were associated with mild phenotype: unilateral retinoblastoma, retinoma or no tumor. In this study we identified causative RB1 mutations in most bilateral RB patients and in some unilateral RB patients, including five novel mutations. These data are crucial for genetic counseling and confirm the need to perform complete genetic screening for RB1 mutations in both constitutional and tumor tissues.

Effect of optical correction on subfoveal choroidal thickness in children with anisohypermetropic amblyopia.

The purpose of this study was to determine the effect of optical correction on the best-corrected visual acuity (BCVA) and subfoveal choroidal thickness (CT) in the eyes of children with anisohypermetropic amblyopia. Twenty-four anisohypermetropic amblyopic eyes and their fellow eyes of 24 patients and twenty-three eyes of 23 age-matched control children were studied. After one year of optical correction, the BCVA in the anisohypermetropic amblyopic eyes was significantly improved. Before the treatment, the mean subfoveal CT in the amblyopic eyes was 351.9 ± 59.4 μm which was significantly thicker than that of control eyes at 302.4 ± 63.2 μm. After the treatment, the amount of change in the subfoveal CT in the amblyopic and fellow eyes was greater than that in the control eyes. The amblyopic and fellow eyes with thicker choroids had a greater thinning of the choroid whereas eyes with thinner choroids had a greater thickening of the choroid. We conclude that wearing corrective lenses improves the visual acuity, and induces changes of the subfoveal CT in eyes with anisohypermetropic amblyopia.

Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7.

To test the genetic association between Japanese patients with primary open-angle glaucoma (POAG) and the previously reported POAG susceptibility loci and to perform genotype-phenotype analysis.

Systemic Inflammation-Associated Proteins and Retinopathy of Prematurity in Infants Born Before the 28th Week of Gestation.

To assess the association between systemic levels of inflammation-associated proteins and severe retinopathy of prematurity (ROP) in extremely preterm infants.

The Intraocular Lens as a Drug Delivery Device: In Vitro Screening of Pharmacologic Substances for the Prophylaxis of Posterior Capsule Opacification.

Numerous pharmacologic substances have been proposed for preventing posterior capsule opacification (PCO). The following trial was to compare those drugs to find more suitable options. IOL should then be modified by the pharmaceuticals as a drug-delivery device.

Development and Validation of a Risk Score for Age-Related Macular Degeneration: The STARS Questionnaire.

To develop and validate a risk score for AMD based on a simple self-administered questionnaire.

Diabetic Retinopathy and Macular Edema Quality-of-Life Item Banks: Development and Initial Evaluation Using Computerized Adaptive Testing.

The purpose of this study was to assess the psychometric properties of diabetic retinopathy (DR) and diabetic macular edema (DME) quality-of-life (QoL) item banks and determine the utility of the final calibrated item banks by simulating a computerized adaptive testing (CAT) application.

Corneal Aberrations in Former Preterm Infants: Results From The Wiesbaden Prematurity Study.

To compare corneal aberrations in former preterm infants to that of full-term infants.

Corneal and Retinal Neuronal Degeneration in Early Stages of Diabetic Retinopathy.

To examine the neuronal structural integrity of cornea and retina as markers for neuronal degeneration in nonproliferative diabetic retinopathy (NPDR).

Patchy Chorioretinal Atrophy Changes at the Posterior Pole After Ranibizumab for Myopic Choroidal Neovascularization.

To investigate the potential role of ranibizumab treatment on the development or enlargement of chorioretinal atrophy (CRA) at the posterior pole in eyes with myopic choroidal neovascularization (mCNV).

Effect of Age-Related Human Lens Sutures Growth on Its Fluid Dynamics.

Age-related nuclear cataract is the opacification of the clear ocular lens due to oxidative damage as we age, and is the leading cause of blindness in the world. A lack of antioxidant supply to the core of ever-growing ocular lens could contribute to the cause of this condition. In this project, a computational model was developed to study the sutural fluid inflow of the aging human lens.