What's New and Important in Pediatric Ophthalmology and Strabismus In
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Congenital Cataract
3801 W. 15th St., Bldg. A, Ste. 110 Plano, TX 75075 Phone: (972) 758-0625 Fax: (972) 964-5725 Email: [email protected] Website: www.drstagerjr.com Congenital Cataract Your eye works a lot like a camera. Light rays focus through the lens on the retina, a layer of light-sensitive cells at the back of the eye. Similar to photographic film, the retina allows the image to be “seen” by the brain. Over time, the lens of our eye can become cloudy, preventing light rays from passing clearly through the lens. The loss of transparency may be so mild that vision is barely affected, or it can be so severe that no shapes or movements are seen—only light and dark. When the lens becomes cloudy enough to obstruct vision to any significant degree, it is called a cataract. Eyeglasses or contact lenses can usually correct slight refractive errors caused by early cataracts, but they cannot sharpen your vision if a severe cataract is present. The most common cause of cataract is aging. Occasionally, babies are born with cataracts or develop them very early in life. This condition is called congenital cataract. There are many causes of congenital cataract. Certain diseases can cause the condition, and sometimes it can be inherited. However, in most cases, there is no identifiable cause. Treatment for cataract in infants varies depending on the nature of each patient’s condition. Surgery is usually recommended very early in life, but many factors affect this decision, including the infant’s health and whether there is a cataract in one or both eyes. -
Genetic Defects of CHM and Visual Acuity Outcome in 24 Choroideremia
www.nature.com/scientificreports OPEN Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families Takaaki Hayashi1,2*, Shuhei Kameya3, Kei Mizobuchi2, Daiki Kubota3, Sachiko Kikuchi3, Kazutoshi Yoshitake4, Atsushi Mizota5, Akira Murakami6, Takeshi Iwata4 & Tadashi Nakano2 Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families. We measured decimal best-corrected visual acuity (BCVA) at presentation and follow-up, converted to logMAR units for statistical analysis. Sanger and/or whole-exome sequencing were performed to identify pathogenic CHM variants/deletions. The median age at presentation was 37.0 years (range, 5–76 years). The mean follow-up interval was 8.2 years. BCVA of the better-seeing eye at presentation was signifcantly worsened with increasing age (r = 0.515, p < 0.01), with a high rate of BCVA decline in patients > 40 years old. A Kaplan–Meier survival curve suggested that a BCVA of Snellen equivalent 20/40 at follow-up remains until the ffties. Fourteen pathogenic variants, 6 of which were novel [c.49 + 5G > A, c.116 + 5G > A, p.(Gly176Glu, Glu177Ter), p.Tyr531Ter, an exon 2 deletion, and a 5.0-Mb deletion], were identifed in 15 families. No variant was found in one family only. Our BCVA outcome data are useful for predicting visual prognosis and determining the timing of intervention in Japanese patients with CHM variants. -
Plastics-Roadmap
Oculoplastics Roadmap Idea for New Intern Curriculum Interns should spend at least 1 Friday afternoon in VA Oculoplastics OR; Friday PM is already protected time. Interns should practice 100 simple interrupted stitches and surgeon’s knots in the Wet Lab before PGY2. Lectures (2 hour interactive sessions) Basic Principles of Plastic Surgery and Oculoplastics (Year A = Year B) Trauma Management (Year A: Orbit trauma. Year B: Eyelid trauma.) Eyelid malpositions and dystopias (Year A: Entropion, Ectropion, Ptosis. Year B: spasm, dystonias) Eyelid Lesions: benign and malignant (Year A = Year B) Lacrimal Disorders (Year A: Pediatric. Year B: Adult.) Orbital Disorders (Year A: Acquired. Year B: Congenital.) Core Topics (to be discussed on rotation) Thyroid eye disease management Ptosis evaluation and recommendations Ectropion/entropion management Orbital fracture management Orbit imaging modalities Home Study Topics Orbit anatomy Congenital malformations Surgical steps and instruments Clinical Skills (to be learned on rotation) External photography Lid and orbit measurements Chalazion and lid lesion excisions Punctal plug placement Local anesthetic injection of lids (important for call!) Schirmer Testing, Jones Testing NLD probing/irrigation Canthotomy/cantholysis (in the OR) Directed Reading (residents will read BCSC and article abstracts at home) BCSC Henderson et al. Photographic standards for facial plastic surgery. Arch Facial Plast Surg. 2005. Strazar et al. Minimizing the pain of local anesthesia injection. Plastic and Reconstructive Surgery. 2013. Simon et al. External levator advancement vs Müller’s muscle–conjunctival resection for correction of upper eyelid involutional ptosis. American Journal of Ophthalmology. 2005. Harris and Perez. Anchored flaps in post-Mohs reconstruction of the lower eyelid, cheek, and lateral canthus. -
Online Ophthalmology Curriculum
Online Ophthalmology Curriculum Video Lectures Zoom Discussion Additional videos Interactive Content Assignment Watch these ahead of the assigned Discussed together on Watch these ahead of or on the assigned Do these ahead of or on the Due as shown (details at day the assigned day day assigned day link above) Basic Eye Exam (5m) Interactive Figures on Eye Exam and Eye exam including slit lamp (13m) Anatomy Optics (24m) Day 1: Eye Exam and Eye Anatomy Eyes Have It Anatomy Quiz Practice physical exam on Orientation Anatomy (25m) (35m) Eyes Have It Eye Exam Quiz a friend Video tutorials on eye exam Iowa Eye Exam Module (from Dr. Glaucomflecken's Guide to Consulting Physical Exam Skills) Ophthalmology (35 m) IU Cases: A B C D Online MedEd: Adult Ophtho (13m) Eyes for Ears Podcast AAO Case Sudden Vision Loss Day 2: Acute Vision Loss (30m) Acute Vision Loss and Eye Guru: Dry Eye Ophthalmoscopy and Red Eye Eye Guru: Abrasions and Ulcers virtual module IU Cases: A B C D E Red Eye (30m) Corneal Transplant (2m) Eyes for Ears Podcast AAO Case Red Eye #1 AAO Case Red Eye #2 EyeGuru: Cataract EyeGuru: Glaucoma Cataract Surgery (11m) EyeGuru: AMD Glaucoma Surgery (6m) IU Cases: A B Day 3: Intravitreal Injection (4m) Eyes for Ears Podcast Independent learning Chronic Vision Loss (34m) Chronic Vision Loss AAO Case Chronic Vision Loss reflection (due Day 3 at 8 and and Systemic Disease pm) Systemic Disease (32m) EyeGuru: Diabetic Retinopathy IU Cases: A B Eyes Have It Systemic Disease Quiz AAO Case Systemic Disease #1 AAO Case Systemic Disease #2 Mid-clerkship -
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
brain sciences Article Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome Celeste Casto 1,†, Valeria Dipasquale 1,†, Ida Ceravolo 2, Antonella Gambadauro 1, Emanuela Aliberto 3, Karol Galletta 4, Francesca Granata 4, Giorgia Ceravolo 1, Emanuela Falzia 5, Antonella Riva 6 , Gianluca Piccolo 6, Maria Concetta Cutrupi 1, Pasquale Striano 6,7 , Andrea Accogli 7,8, Federico Zara 7,8, Gabriella Di Rosa 9, Eloisa Gitto 10, Elisa Calì 11, Stephanie Efthymiou 11 , Vincenzo Salpietro 6,7,11,*, Henry Houlden 11 and Roberto Chimenz 12 1 Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy; [email protected] (C.C.); [email protected] (V.D.); [email protected] (A.G.); [email protected] (G.C.); [email protected] (M.C.C.) 2 Unit of Ophthalmology, Department of Clinical and Experimental Medicine, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy; [email protected] 3 Casa di Cura la Madonnina, Via Quadronno 29, 20122 Milano, Italy; [email protected] 4 Department of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy; [email protected] (K.G.); [email protected] (F.G.) 5 Azienza Ospedaliera di Cosenza, Via San Martino, 87100 Cosenza, Italy; [email protected] 6 Pediatric Neurology and Muscular Diseases Unit, -
Expanding the Phenotypic Spectrum of PAX6 Mutations: from Congenital Cataracts to Nystagmus
G C A T T A C G G C A T genes Article Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus Maria Nieves-Moreno 1,* , Susana Noval 1 , Jesus Peralta 1, María Palomares-Bralo 2 , Angela del Pozo 3 , Sixto Garcia-Miñaur 4, Fernando Santos-Simarro 4 and Elena Vallespin 5 1 Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (S.N.); [email protected] (J.P.) 2 Department of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] 3 Department of Bioinformatics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] 4 Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] (S.G.-M.); [email protected] (F.S.-S.) 5 Department of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain; [email protected] * Correspondence: [email protected] Abstract: Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we describe the phenotype of eight patients from seven unrelated families Citation: Nieves-Moreno, M.; Noval, with confirmed mutations in PAX6, and very different clinical manifestations. -
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Retina Treatment Potential for LCA5-Associated Leber Congenital Amaurosis Katherine E. Uyhazi,1,2 Puya Aravand,1 Brent A. Bell,1 Zhangyong Wei,1 Lanfranco Leo,1 Leona W. Serrano,2 Denise J. Pearson,1,2 Ivan Shpylchak,1 Jennifer Pham,1 Vidyullatha Vasireddy,1 Jean Bennett,1 and Tomas S. Aleman1,2 1Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA 2Scheie Eye Institute at The Perelman Center for Advanced Medicine, University of Pennsylvania, Philadelphia, PA, USA Correspondence: Tomas S. Aleman, PURPOSE. To determine the therapeutic window for gene augmentation for Leber congen- Perelman Center for Advanced ital amaurosis (LCA) associated with mutations in LCA5. Medicine, University of Pennsylvania, 3400 Civic Center METHODS. Five patients (ages 6–31) with LCA and biallelic LCA5 mutations underwent Blvd, Philadelphia, PA 19104, USA; an ophthalmic examination including optical coherence tomography (SD-OCT), full-field [email protected]. stimulus testing (FST), and pupillometry. The time course of photoreceptor degeneration in the Lca5gt/gt mouse model and the efficacy of subretinal gene augmentation therapy Received: November 19, 2019 with AAV8-hLCA5 delivered at postnatal day 5 (P5) (early, n = 11 eyes), P15 (mid, n = 14), Accepted: March 16, 2020 = Published: May 19, 2020 and P30 (late, n 13) were assessed using SD-OCT, histologic study, electroretinography (ERG), and pupillometry. Comparisons were made with the human disease. Citation: Uyhazi KE, Aravand P, Bell BA, et al. Treatment potential for RESULTS. Patients with LCA5-LCA showed a maculopathy with detectable outer nuclear LCA5-associated Leber congenital layer (ONL) in the pericentral retina and at least 4 log units of dark-adapted sensitivity amaurosis. -
Oculoplastics/Orbit 2017-2019
Academy MOC Essentials® Practicing Ophthalmologists Curriculum 2017–2019 Oculoplastics and Orbit *** Oculoplastics/Orbit 2 © AAO 2017-2019 Practicing Ophthalmologists Curriculum Disclaimer and Limitation of Liability As a service to its members and American Board of Ophthalmology (ABO) diplomates, the American Academy of Ophthalmology has developed the Practicing Ophthalmologists Curriculum (POC) as a tool for members to prepare for the Maintenance of Certification (MOC) -related examinations. The Academy provides this material for educational purposes only. The POC should not be deemed inclusive of all proper methods of care or exclusive of other methods of care reasonably directed at obtaining the best results. The physician must make the ultimate judgment about the propriety of the care of a particular patient in light of all the circumstances presented by that patient. The Academy specifically disclaims any and all liability for injury or other damages of any kind, from negligence or otherwise, for any and all claims that may arise out of the use of any information contained herein. References to certain drugs, instruments, and other products in the POC are made for illustrative purposes only and are not intended to constitute an endorsement of such. Such material may include information on applications that are not considered community standard, that reflect indications not included in approved FDA labeling, or that are approved for use only in restricted research settings. The FDA has stated that it is the responsibility of the physician to determine the FDA status of each drug or device he or she wishes to use, and to use them with appropriate patient consent in compliance with applicable law. -
Pediatric Pharmacology and Pathology
7/31/2017 In the next 2 hours……. Pediatric Pharmacology and Pathology . Ocular Medications and Children The content of th is COPE Accredited CE activity was prepared independently by Valerie M. Kattouf O.D. without input from members of the optometric community . Brief review of examination techniques/modifications for children The content and format of this course is presented without commercial bias and does not claim superiority of any commercial product or service . Common Presentations of Pediatric Pathology Valerie M. Kattouf O.D., F.A.A.O. Illinois College of Optometry Chief, Pediatric Binocular Vision Service Associate Professor Ocular Medications & Children Ocular Medications & Children . Pediatric systems differ in: . The rules: – drug excretion – birth 2 years old = 1/2 dose kidney is the main site of drug excretion – 2-3 years old = 2/3 dose diminished 2° renal immaturity – > 3 years old = adult dose – biotransformation liver is organ for drug metabolism Impaired 2° enzyme immaturity . If only 50 % is absorbed may be 10x maximum dosage Punctal Occlusion for 3-4 minutes ↓ systemic absorption by 40% Ocular Medications & Children Ocular Medications & Children . Systemic absorption occurs through….. Ocular Meds with strongest potential for pediatric SE : – Mucous membrane of Nasolacrimal Duct 80% of each gtt passing through NLD system is available for rapid systemic absorption by the nasal mucosa – 10 % Phenylephrine – Conjunctiva – Oropharynx – 2 % Epinephrine – Digestive system (if swallowed) Modified by variation in Gastric pH, delayed gastric emptying & intestinal mobility – 1 % Atropine – Skin (2° overflow from conjunctival sac) Greatest in infants – 2 % Cyclopentalate Blood volume of neonate 1/20 adult Therefore absorbed meds are more concentrated at this age – 1 % Prednisone 1 7/31/2017 Ocular Medications & Children Ocular Medications & Children . -
Congenital Ocular Anomalies in Newborns: a Practical Atlas
www.jpnim.com Open Access eISSN: 2281-0692 Journal of Pediatric and Neonatal Individualized Medicine 2020;9(2):e090207 doi: 10.7363/090207 Received: 2019 Jul 19; revised: 2019 Jul 23; accepted: 2019 Jul 24; published online: 2020 Sept 04 Mini Atlas Congenital ocular anomalies in newborns: a practical atlas Federico Mecarini1, Vassilios Fanos1,2, Giangiorgio Crisponi1 1Neonatal Intensive Care Unit, Azienda Ospedaliero-Universitaria Cagliari, University of Cagliari, Cagliari, Italy 2Department of Surgery, University of Cagliari, Cagliari, Italy Abstract All newborns should be examined for ocular structural abnormalities, an essential part of the newborn assessment. Early detection of congenital ocular disorders is important to begin appropriate medical or surgical therapy and to prevent visual problems and blindness, which could deeply affect a child’s life. The present review aims to describe the main congenital ocular anomalies in newborns and provide images in order to help the physician in current clinical practice. Keywords Congenital ocular anomalies, newborn, anophthalmia, microphthalmia, aniridia, iris coloboma, glaucoma, blepharoptosis, epibulbar dermoids, eyelid haemangioma, hypertelorism, hypotelorism, ankyloblepharon filiforme adnatum, dacryocystitis, dacryostenosis, blepharophimosis, chemosis, blue sclera, corneal opacity. Corresponding author Federico Mecarini, MD, Neonatal Intensive Care Unit, Azienda Ospedaliero-Universitaria Cagliari, University of Cagliari, Cagliari, Italy; tel.: (+39) 3298343193; e-mail: [email protected]. -
University of Rochester Flaum Eye Institute
University of Rochester Flaum Eye Institute State-of-the-art eye care… it’s available right here in Rochester. No one should live with vision that is less than what it can be. People who have trouble seeing often accept their condition, not knowing that treatment is available — from the simplest of medications and visual tools to state-of-the-art surgical procedures. Now you can easily refer them to the help they need — all at the Flaum Eye Institute at the University of Rochester. See the dierence we can make in your patients’ quality of life. Refer them today to 585-273-EYES. University of Rochester Flaum Eye Institute A world-class team of ophthalmologists, sub- specialists, and researchers, the faculty practice is committed to developing and applying advanced technologies for the preservation, enhancement, and restoration of vision. Working through a unique partnership of academic medicine, private industry, and the community, we are here to serve you and your patients. One phone number for all faculty practice appoint- ments and new centralized systems make the highest quality eye care more accessible than ever before. Working together, our physicians provide a full range of treatment options for the most common to the most complex vision problems. Glaucoma Cataract Macular Degeneration Diabetic Retinopathy Orbital Diseases Low Vision Dry Eye Syndrome Refractive Surgery Optic Neuropathies Corneal Disease Oculoplastics Motility Disorders Comprehensive Eye Care All-important routine eye exams and a wide range of procedures are oered through the Comprehensive Eye Care service. Consultative, diagnostic, and treatment services are all provided for patients with conditions or symptoms common to cataracts, dry eye, glaucoma, and corneal surface disorders. -
Gene Therapy for Inherited Retinal Diseases
1278 Review Article on Novel Tools and Therapies for Ocular Regeneration Page 1 of 13 Gene therapy for inherited retinal diseases Yan Nuzbrokh1,2,3, Sara D. Ragi1,2, Stephen H. Tsang1,2,4 1Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA; 2Jonas Children’s Vision Care, New York, NY, USA; 3Renaissance School of Medicine at Stony Brook University, Stony Brook, New York, NY, USA; 4Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA Contributions: (I) Conception and design: All authors; (II) Administrative support: SH Tsang; (III) Provision of study materials or patients: SH Tsang; (IV) Collection and assembly of data: All authors; (V) Manuscript writing: All authors; (VI) Final approval of manuscript: All authors. Correspondence to: Stephen H. Tsang, MD, PhD. Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY 10032, USA. Email: [email protected]. Abstract: Inherited retinal diseases (IRDs) are a genetically variable collection of devastating disorders that lead to significant visual impairment. Advances in genetic characterization over the past two decades have allowed identification of over 260 causative mutations associated with inherited retinal disorders. Thought to be incurable, gene supplementation therapy offers great promise in treating various forms of these blinding conditions. In gene replacement therapy, a disease-causing gene is replaced with a functional copy of the gene. These therapies are designed to slow disease progression and hopefully restore visual function. Gene therapies are typically delivered to target retinal cells by subretinal (SR) or intravitreal (IVT) injection.