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Neuroanatomy Crash Course
Neuroanatomy Crash Course Jens Vikse ∙ Bendik Myhre ∙ Danielle Mellis Nilsson ∙ Karoline Hanevik Illustrated by: Peder Olai Skjeflo Holman Second edition October 2015 The autonomic nervous system ● Division of the autonomic nervous system …………....……………………………..………….…………... 2 ● Effects of parasympathetic and sympathetic stimulation…………………………...……...……………….. 2 ● Parasympathetic ganglia ……………………………………………………………...…………....………….. 4 Cranial nerves ● Cranial nerve reflexes ………………………………………………………………….…………..…………... 7 ● Olfactory nerve (CN I) ………………………………………………………………….…………..…………... 7 ● Optic nerve (CN II) ……………………………………………………………………..…………...………….. 7 ● Pupillary light reflex …………………………………………………………………….…………...………….. 7 ● Visual field defects ……………………………………………...................................…………..………….. 8 ● Eye dynamics …………………………………………………………………………...…………...………….. 8 ● Oculomotor nerve (CN III) ……………………………………………………………...…………..………….. 9 ● Trochlear nerve (CN IV) ………………………………………………………………..…………..………….. 9 ● Trigeminal nerve (CN V) ……………………………………………………................…………..………….. 9 ● Abducens nerve (CN VI) ………………………………………………………………..…………..………….. 9 ● Facial nerve (CN VII) …………………………………………………………………...…………..………….. 10 ● Vestibulocochlear nerve (CN VIII) …………………………………………………….…………...…………. 10 ● Glossopharyngeal nerve (CN IX) …………………………………………….……….…………...………….. 10 ● Vagus nerve (CN X) …………………………………………………………..………..…………...………….. 10 ● Accessory nerve (CN XI) ……………………………………………………...………..…………..………….. 11 ● Hypoglossal nerve (CN XII) …………………………………………………..………..…………...…………. -
T20 FUNCTIONAL UPPER EYELID BLEPHAROPLASTY Policy Author
Policy T20 Blepharoplasty THRESHOLD POLICY – T20 FUNCTIONAL UPPER EYELID BLEPHAROPLASTY Policy author: West Suffolk CCG and Ipswich and East Suffolk CCG, with support from Public Health Suffolk. Policy start date: January 2008 Subsequent reviews July 2012 September 2014 February 2017 Next review date: February 2020 1. Policy Summary 1.1 Blepharoplasty is considered a low priority treatment and will only be funded by Ipswich and East Suffolk CCG & West Suffolk CCG when the following criteria are met. It will not be funded for cosmetic reasons. 1.2 This policy doesn’t apply to anyone <19 years of age. 2. Eligibility Criteria 2.1 Upper eyelid blepharoplasty is considered medically necessary for the following indications: a) To repair defects predisposing to corneal or conjunctival irritation such as entropion or pseudotrichiasis. OR b) To treat periorbital sequelae of thyroid disease, nerve palsy, blepharochalasis, floppy eyelid syndrome and chronic inflammatory skin conditions. OR c) To relieve symptoms of blepharospasm or significant dermatitis on the upper eyelid caused by redundant tissue. OR d) Following skin grafting for eyelid reconstruction. OR e) At the same time as ptosis correction for the upper eyelid if the surplus skin is felt to be excess on lifting the ptotic eyelid 2.2 For all other individuals, the following criteria apply: a) Documented patient complaints of interference with vision or visual field related activities such as difficulty reading or driving due to upper eye lid skin drooping, looking through the eyelids or seeing the upper eye lid skin AND b) There is redundant skin overhanging the upper eye lid margin and resting on the eyelashes when gazing straight ahead AND S:\Clinical Quality\00 Chief Nursing Office\Clinical Oversight Group\POLICIES\T\Policies\T20 blepharoplasty\T20 Blepharoplasty E.docx 1 Policy T20 Blepharoplasty c) Supporting evidence from visual field testing that eyelids impinge on visual fields reducing field to 120° horizontally and/or 40° or less vertically. -
Improved Preservation of Human Corneal Basement Membrane
BritishJournal ofOphthalmology 1994; 78: 863-870 863 Improved preservation ofhuman corneal basement membrane following freezing of donor tissue for Br J Ophthalmol: first published as 10.1136/bjo.78.11.863 on 1 November 1994. Downloaded from epikeratophakia Robert D Young, W John Armitage, Paul Bowerman, Stuart D Cook, David L Easty Abstract States, good results continue to be achieved by Current methods for the production of the small number ofBritish surgeons performing lenticules for epikeratophakia involve rapid the technique.4 However, no comprehensive freezing, cryolathing, and slow warming of the account of its long term outcome has yet been donor cornea. We have found that this pro- published. cedure causes structural damage to the Several complications resulting in the failure epithelial basement membrane in the donor of epikeratophakia have been reported, includ- cornea which may subsequently contribute to ing infection, graft dehiscence, persistent inter- poor postoperative re-epithelialisation of the face haze or opacity, ulceration, and imperfect implant, leading to graft failure. Endeavouring re-epithelialisation. Among these, the failure of to overcome these problems, the effects of host epithelial cells to migrate over and re- cryoprotection of donor cornea were investi- surface the anterior face of the grafted tissue gated, using dimethyl sulphoxide, in conjunc- continues to be the major reason for the removal tion with different cooling and warming rates ofepikeratophakia lenticules.'-'0 as part of the protocol for cryolathing. The Epithelial healing is itselfa complex phenome- structural integrity of the epithelial basement non involving mitosis of host cells at the graft membrane zone (BMZ) was then assessed by periphery, centripetal migration, and attach- electron microscopy and by immunofluores- ment. -
Whole Exome Sequencing Gene Package Vision Disorders, Version 6.1, 31-1-2020
Whole Exome Sequencing Gene package Vision disorders, version 6.1, 31-1-2020 Technical information DNA was enriched using Agilent SureSelect DNA + SureSelect OneSeq 300kb CNV Backbone + Human All Exon V7 capture and paired-end sequenced on the Illumina platform (outsourced). The aim is to obtain 10 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate and non-unique reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA-MEM algorithm (reference: http://bio-bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x ABCA4 Cone-rod dystrophy 3, 604116 601691 94 100 100 97 Fundus flavimaculatus, 248200 {Macular degeneration, age-related, 2}, 153800 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa 19, 601718 Stargardt disease -
Photorefractive Keratectomy for Correction of Epikeratophakia
CASE REPORTS AND SMALL CASE SERIES high myopia resulting from poste- results might be related to the pre- Photorefractive Keratectomy rior lenticonus. Postsurgical refrac- existing corneal stromal abnormali- for Correction of tion was stable for 8 years, then a ties in their patients, which were not Epikeratophakia Regression rapid myopic regression of the epi- observed in our group. Thus, PRK keratophakic lenses was observed can effectively be used to treat epi- Excimer laser photorefractive kera- the following year (Table). In- keratophakic regressed lenses in a se- tectomy (PRK) is widely used for the stead of removing the failed epikera- lected group of patients in whom correction of myopia, astigmatism, tophakic lenses, we performed PRK both the epikeratograft and the sur- and hyperopia.1,2 It has also been on the eyes. rounding cornea are clear. This used for correction of astigmatism method eliminates the need for re- after penetrating keratoplasty.3 Results. Two and a half years after moval of the epikeratograft and ex- Epikeratophakia has been used PRK, the refraction in all 4 eyes is posing the patient to the risks of suc- in the treatment of nontolerant con- stable and the epigrafts are clear. The cessive penetrating keratoplasty. tact lens keratoconous patients.4,5 Table presents the refraction and vi- The epigrafts were made from ma- sual acuity results for the eyes be- Hirsh Ami, MD chined corneal tissue that was found fore PRK and at 3 months, 1 year, Solberg Yoram, MD, PhD unsuitable for penetrating kerato- and 21⁄2 years after PRK. No haze has Cahana Michael, MD plasty. -
Megalocornea Jeffrey Welder and Thomas a Oetting, MS, MD September 18, 2010
Megalocornea Jeffrey Welder and Thomas A Oetting, MS, MD September 18, 2010 Chief Complaint: Visual disturbance when changing positions. History of Present Illness: A 60-year-old man with a history of simple megalocornea presented to the Iowa City Veterans Administration Healthcare System eye clinic reporting visual disturbance while changing head position for several months. He noticed that his vision worsened with his head bent down. He previously had cataract surgery with an iris-sutured IOL due to the large size of his eye, which did not allow for placement of an anterior chamber intraocular lens (ACIOL) or scleral-fixated lens. Past Medical History: Megalocornea Medications: None Family History: No known history of megalocornea Social History: None contributory Ocular Exam: • Visual Acuity (with correction): • OD 20/100 (cause unknown) • OS 20/20 (with upright head position) • IOP: 18mmHg OD, 17mmHg OS • External Exam: normal OU • Pupils: No anisocoria and no relative afferent pupillary defect • Motility: Full OU. • Slit lamp exam: megalocornea (>13 mm in diameter) and with anterior mosaic dystrophy. Iris-sutured posterior chamber IOLs (PCIOLs), stable OD, but pseudophacodonesis OS with loose inferior suture evident. • Dilated funduscopic exam: Normal OU Clinical Course: The patient’s iris-sutured IOL had become loose (tilted and de-centered) in his large anterior chamber, despite several sutures that had been placed in the past, resulting now in visual disturbance with movement. FDA and IRB approval was obtained to place an Artisan iris-clip IOL (Ophtec®). He was taken to the OR where his existing IOL was removed using Duet forceps and scissors. The Artisan IOL was placed using enclavation iris forceps. -
Policy 96018: Blepharoplasty, Blepharoptosis Repair, and Brow
Policy: 96018 Initial Effective Date: 11/22/1996 SUBJECT: Blepharoplasty, Blepharoptosis Repair, and Annual Review Date: 11/16/2020 Brow Ptosis Repair Last Revised Date: 11/16/2020 Prior approval is required for some or all procedure codes listed in this Corporate Medical Policy. Definition: The term blepharoplasty refers to a collection of surgical procedures that involve removal of redundant eyelid tissue (skin, muscle, and fat). Although the primary indication for blepharoplasty is to improve the eyelid appearance, redundant lax eyelid tissue (dermatochalasis) can obstruct the superior visual field and interfere with activities of daily living in some individuals. In these cases, blepharoplasty may be considered in order to produce functional improvement in vision. The pathophysiology of dermatochalasis has not been well described, but much of the process appears to involve skin changes associated with the aging process. Less commonly, systemic disorders such as Ehlers-Danlos syndrome may predispose patients to develop dermatochalasis at a younger age. Clinical manifestations are mainly cosmetic, but in severe cases eyelid tissue may obstruct the superior visual field. The most common symptoms include difficulty reading and loss of peripheral vision when driving. Blepharoplasty may help to improve function for patients with clinically significant dermatochalasis. Blepharochalasis is sometimes confused with dermatochalasis. Though similar in nomenclature, these two disorders are quite different in presentation and etiology. Blepharochalasis is a rare condition characterized by intermittent, recurrent eyelid edema, resulting in relaxation of the eyelid tissue and resultant atrophy. The lower eyelids are less commonly involved. Blepharochalasis typically presents in adolescence or young adulthood, with intermittent attacks that occur less commonly as the person ages. -
Central Serous Choroidopathy
Br J Ophthalmol: first published as 10.1136/bjo.66.4.240 on 1 April 1982. Downloaded from British Journal ofOphthalmology, 1982, 66, 240-241 Visual disturbances during pregnancy caused by central serous choroidopathy J. R. M. CRUYSBERG AND A. F. DEUTMAN From the Institute of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands SUMMARY Three patients had during pregnancy visual disturbances caused by central serous choroidopathy. One of them had a central scotoma in her first and second pregnancy. The 2 other patients had a central scotoma in their first pregnancy. Symptoms disappeared spontaneously after delivery. Except for the ocular abnormalities the pregnancies were without complications. The complaints can be misinterpreted as pregnancy-related optic neuritis or compressive optic neuropathy, but careful biomicroscopy of the ocular fundus should avoid superfluous diagnostic and therapeutic measures. Central serous choroidopathy (previously called lamp biomicroscopy of the fundus with a Goldmann central serous retinopathy) is a spontaneous serous contact lens showed a serous detachment of the detachment of the sensory retina due to focal leakage neurosensory retina in the macular region of the from the choriocapillaris, causing serous fluid affected left eye. Fluorescein angiography was not accumulation between the retina and pigment performed because of pregnancy. In her first epithelium. This benign disorder occurs in healthy pregnancy the patient had consulted an ophthal- adults between 20 and 45 years of age, who present mologist on 13 June 1977 for exactly the same with symptoms of diminished visual acuity, relative symptoms, which had disappeared spontaneously http://bjo.bmj.com/ central scotoma, metamorphopsia, and micropsia. after delivery. -
Transient Monocular Visual Loss
Transient Monocular Visual Loss VALÉRIE BIOUSSE, MD AND JONATHAN D. TROBE, MD ● PURPOSE: To provide a practical update on the diagno- when most episodes of TMVL do not cause total loss of sis and management of transient monocular visual loss vision.2 (TMVL). The most important step in evaluating a patient with ● DESIGN: Perspective. visual loss is to establish whether the visual loss is ● METHODS: Review of the literature. monocular or binocular.2,5 Monocular visual loss always ● RESULTS: TMVL is an important clinical symptom. It results from lesions anterior to the chiasm (the eye or the has numerous causes but most often results from tran- optic nerve), whereas binocular visual loss results from sient retinal ischemia. It may herald permanent visual lesions of both eyes or optic nerves, or, more likely, of the loss or a devastating stroke, and patients with TMVL chiasm or retrochiasmal visual pathway. should be evaluated urgently. A practical approach to the Deciding whether an episode of abrupt visual loss evaluation of the patient with TMVL must be based on occurred in one eye or both is not always easy. Very few the patient’s age and the suspected underlying etiology. patients realize that binocular hemifield (homonymous) In the older patient, tests should be performed to inves- visual field loss affects the fields of both eyes. They will tigate giant cell arteritis, atherosclerotic large vessel usually localize it to the eye that lost its temporal field. The disease, and cardiac abnormalities. In the younger pa- best clues to the fact that visual loss was actually binocular tient, TMVL is usually benign and the evaluation should are reading impairment (monocular visual loss does not be tailored to the particular clinical setting. -
Insertion of Aqueous Shunt in Pedicatric Glaucoma
1/29/2018 Challenges of Insertion of Aqueous shunt in paediatric glaucoma Ahmed Elkarmouty MD, FRCS Moorfields Eye Hospital London, UK Classification • Primary Childhood Glaucoma • A- Primary Congenital Glaucoma (PCG) 1: 10,000–18,000 • B- Juvenile Open Angle Glaucoma (JOAG) (5-35 ys,)1 : 50,000. • Secondary Childhood Glaucoma • A- Glaucoma associated with non-acquired ocular anomalies • B- Glaucoma associated with non- acquired systemic disease or syndrome • C- Glaucoma associated with acquired condition • D- Glaucoma following Cataract surgery 1 1/29/2018 Glaucoma associated with non- acquired ocular anomalies • Conditions with predominantly ocular anomalies present at birth which may or may not be associated with systemic signs • Axenfeld Reiger anomaly • Peters anomaly • Ectropion Uvae • Congenital iris hypolplasia • Aniridia • Oculodermal melanocytosis • Posterior polymorphous dystrophy • Microphthalmos • Microcornea • Ectopia Lentis ( et pupillae) • Persistent foetus vasculopathy Glaucoma associated with non- acquired systemic disease or syndrome predominantly associated with known syndrome, systemic anomalies present at birth which may be associated with ocular signs • Down Syndrome • Connective tissue disorder: Marfan syndrome, Weill- Marchesiani syndrome, Stickler syndrome • Metabolic disorder : Homocystenuria, lowe syndrome, Mucoploysacchroidoses • Phacomatoses: Neurofibromatoses, Sturge Weber, Klipple-Trenaunay- weber syndrome, Rubenstein Taybi • Congenital Rubella 2 1/29/2018 Glaucoma associated with acquired condition Conditions -
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. -
Ophthalmology
Ophthalmology Information for health professionals MEDICAL GENETIC TESTING FOR OPHTHALMOLOGY Recent technologies, in particularly Next Generation Sequencing (NGS), allows fast, accurate and valuable diagnostic tests. For Ophthalmology, CGC Genetics has an extensive list of medical genetic tests with clinical integration of results by our Medical Geneticists. 1. EXOME SEQUENCING: Exome Sequencing is a very efficient strategy to study most exons of a patient’s genome, unraveling mutations associated with specific disorders or phenotypes. With this diagnostic strategy, patients can be studied with a significantly reduced turnaround time and cost. CGC Genetics has available 2 options for Exome Sequencing: • Whole Exome Sequencing (WES), which analyzes the entire exome (about 20 000 genes); • Disease Exome by CGC Genetics, which analyzes about 6 000 clinically-relevant genes. Any of these can be performed in the index case or in a Trio. 2. NGS PANELS For NGS panels, several genes associated with the same phenotype are simultaneously sequenced. These panels provide increased diagnostic capability with a significantly reduced turnaround time and cost. CGC Genetics has several NGS panels for Ophthalmology that are constantly updated (www.cgcgenetics.com). Any gene studied in exome or NGS panel can also be individually sequenced and analyzed for deletion/duplication events. 3. EXPERTISE IN MEDICAL GENETICS CGC Genetics has Medical Geneticists specialized in genetic counseling for ophthalmological diseases who may advice in choosing the most appropriate