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https://www.readbyqxmd.com/read/28095637/gene-therapy-for-achromatopsia
#1
REVIEW
Stylianos Michalakis, Christian Schön, Elvir Becirovic, Martin Biel
AIM: This review summarizes the current status of Achromatopsia (ACHM) gene therapy-related research activities and provides an outlook for their clinical application. DISCUSSION: ACHM is an inherited eye disease characterized by congenital absence of cone photoreceptor function. As a consequence, ACHM is associated with strongly impaired daylight vision, photophobia, nystagmus, and lack of color discrimination. Currently, six genes have been linked to ACHM. Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated (CNG) channel...
January 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28074147/cerebellar-ataxia-and-sensory-ganglionopathy-associated-with-light-chain-myeloma
#2
Panagiotis Zis, Dasappaiah Ganesh Rao, Bart E Wagner, Lucinda Nicholson-Goult, Nigel Hoggard, Marios Hadjivassiliou
BACKGROUND: Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation. CASE PRESENTATION: A 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28069468/children-with-dorsal-midbrain-syndrome-as-a-result-of-pineal-tumors
#3
Mary Ellen Hoehn, Julie Calderwood, Thomas O'Donnell, Gregory T Armstrong, Amar Gajjar
BACKGROUND: Dorsal midbrain syndrome (also known as Parinaud syndrome and pretectal syndrome) is a well-known complication of tumors of the pineal region. However, there are few reports regarding outcomes, especially in children. The purpose of this study was to report the ophthalmic outcomes in a group of children with pineal tumors treated at a single institution. METHODS: The medical records of pediatric patients diagnosed with pineal region tumors and evaluated at our ophthalmology clinic were studied retrospectively...
January 6, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28068300/early-postoperative-imaging-of-the-labyrinth-by-cone-beam-ct-after-stapes-surgery-for-otosclerosis-with-correlation-to-audiovestibular-outcome
#4
Aurélie Vandevoorde, Marc T Williams, Elsa Ukkola-Pons, Mary Daval, Denis Ayache
BACKGROUND: Sensorineural complications of stapes surgery are rare but potentially serious. Imaging is usually performed to identify an underlying cause, such as excessive intravestibular penetration of the prosthesis or pneumolabyrinth suggesting perilymphatic fistula. Unfortunately, there is very little data in an unselected series of uneventful patients.The aim of this study was to analyze the depth of prosthesis penetration within the vestibule and the rate of pneumolabyrinth the day or the day after the procedure by performing a cone beam computed tomography of the temporal bone in a cohort of unselected patients, and to correlate imaging findings to clinical outcome...
February 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28056109/postural-ataxia-in-cerebellar-downbeat-nystagmus-its-relation-to-visual-proprioceptive-and-vestibular-signals-and-cerebellar-atrophy
#5
Christoph Helmchen, Jan-Birger Kirchhoff, Martin Göttlich, Andreas Sprenger
BACKGROUND: The cerebellum integrates proprioceptive, vestibular and visual signals for postural control. Cerebellar patients with downbeat nystagmus (DBN) complain of unsteadiness of stance and gait as well as blurred vision and oscillopsia. OBJECTIVES: The aim of this study was to elucidate the differential role of visual input, gaze eccentricity, vestibular and proprioceptive input on the postural stability in a large cohort of cerebellar patients with DBN, in comparison to healthy age-matched control subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28054161/the-relationship-of-nystagmus-waveform-on-the-vep-response-in-infantile-nystagmus-syndrome-a-small-case-series
#6
John P Kelly, James O Phillips, Avery H Weiss
PURPOSE: The relationship between eye movements and the visual evoked potential (VEP) response was examined in two subjects with infantile nystagmus syndrome (INS). Changes in VEP amplitude were compared between periods of foveation versus periods of high-frequency nystagmus. An analysis is proposed that improves extraction of the checkerboard reversal VEP signal from subjects with INS. METHODS: INS subjects were 2 healthy children (12-13 years old) with 20/40 or better corrected acuity...
January 5, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28053039/complex-visual-motion-representation-in-mouse-area-v1
#7
Ganna Palagina, Jochen F Meyer, Stelios M Smirnakis
: Rodent visual cortex has a hierarchical architecture similar to that of higher mammals (Coogan and Burkhalter, 1993; Marshel et al., 2011; Wang et al., 2012). Although notable differences exist between the species in terms or receptive field sizes and orientation map organization (Dräger, 1975; Gattass et al., 1987; Van den Bergh et al., 2010), mouse V1 is thought to respond to local orientation and visual motion elements rather than to global patterns of motion, similar to V1 in higher mammals (Niell and Stryker, 2008; Bonin et al...
January 4, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28050464/senior-loken-syndrome
#8
Amarpreet Kaur, Shashi Kant Dhir, Geetika Goyal, Naveen Mittal, R K Goyal
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. The present case report is about two sisters who presented with decreased visual acuity and end stage renal disease. Both had decreased vision, pallor, deranged renal function test and chronic malnutrition. Investigations revealed anaemia, uraemia, raised creatinine, low Glomerular Filteration Rate (GFR). Ophthalmology examination revealed nystagmus, retinal examination depicted pale optic disc and pigmentary changes in the retina...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28050212/otoneurological-abnormalities-in-patients-with-friedreich-s-ataxia
#9
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases. Nystagmus and hearing loss (in some cases) make up some of the common symptoms seen in this disorder. Objective The objective of this study is to examine vestibular disorders in patients with Friedreich ataxia. Methods We conducted a retrospective cross-sectional study. We evaluated 30 patients with ages ranging from six to 72 years (mean age of 38...
January 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28050208/tonic-investigation-concept-of-cervico-vestibular-muscle-afferents
#10
Linda Josephine Dorn, Annabelle Lappat, Winfried Neuhuber, Hans Scherer, Heidi Olze, Matthias Hölzl
Introduction Interdisciplinary research has contributed greatly to an improved understanding of the vestibular system. To date, however, very little research has focused on the vestibular system's somatosensory afferents. To ensure the diagnostic quality of vestibular somatosensory afferent data, especially the extra cranial afferents, stimulation of the vestibular balance system has to be precluded. Objective Sophisticated movements require intra- and extra cranial vestibular receptors. The study's objective is to evaluate an investigation concept for cervico-vestibular afferents with respect to clinical feasibility...
January 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28041618/pyogenic-ventriculitis-and-ventricular-empyema-associated-with-staphylococcus-pseudintermedius-in-a-puppy
#11
S A Headley, L G Pretto-Giordano, D F Nóbrega, C S Altrão, L A Villas-Boas, A A Alfieri, A P F R L Bracarense
A 40-day-old male, blue heeler puppy with hindlimb ataxia, nystagmus, apathy, motor incoordination and hyperaesthesia of the forelimbs died 3 days after the onset of clinical signs. Significant gross findings included cerebellar herniation, cerebral oedema and dilation of the third and right lateral cerebral ventricles due to the accumulation of a purulent exudate. Histopathological examination revealed pyogenic ventriculitis and purulent meningoencephalitis. Pure colonies of a coagulase-positive Staphylococcus were isolated from the purulent cerebral exudate...
December 29, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/28031157/evaluation-of-cervical-vestibular-evoked-myogenic-potential-findings-in-benign-paroxysmal-positional-vertigo
#12
Abdullah Karataş, Turgut Yüce, Işıl Taylan Çebi, Gülşah Acar Yüceant, Cemal Hacı, Mehti Salviz
OBJECTIVE: Although there has been a wide consensus on the mechanism of nystagmus and clinical presentation of benign paroxysmal positional vertigo (BPPV), the neuroepithelial pathophysiology of BPPV still remains unclear. In this study, we aimed to clarify the pathophysiology of BPPV by evaluating the cervical vestibular-evoked myogenic potential (cVEMP) findings of patients. MATERIALS AND METHODS: Thirty-six BPPV patients and 20 healthy volunteers were included...
December 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28018691/intra-attack-vestibuloocular-reflex-changes-in-m%C3%A3-ni%C3%A3-re-s-disease
#13
Dario A Yacovino, John B Finlay
Ménière's attack has been shown to temporarily alter the vestibuloocular reflex (VOR). A patient with unilateral Ménière's disease was serially evaluated with the video Head Impulse Test during single, untreated episodes of acute vertigo. Spontaneous nystagmus activity was concurrently recorded in order to establish the three typical phases of Ménière's attack (irritative, paralytic, and recovery) and correlate them with VOR performance. The onset of attack was associated with a quick change in VOR gain on the side of the affected ear...
2016: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28018469/type-i-chiari-malformation-presenting-orthostatic-syncope-who-treated-with-decompressive-surgery
#14
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Chiari malformations are a congenital anomaly of the hindbrain. The most common, Chiari malformation type I (CM-I), is characterized by herniation of the cerebellar tonsils extending at least 3 mm below the plane of the foramen magnum. Consequently, CM-I is associated with hydrocephalus and symptoms involving compression of the cervicomedullary junction by ectopic tonsils. Several studies have reported the clinical symptoms associated with CM-I, including suboccipital headache, weakness in the upper extremities, facial numbness, loss of temperature sensation, ataxia, diplopia, dysarthria, dysphagia, vomiting, vertigo, nystagmus, and tinnitus...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018441/a-neonate-with-joubert-syndrome-presenting-with-symptoms-of-horner-syndrome
#15
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28009406/the-frequency-and-causes-of-abnormal-head-position-based-on-an-ophthalmology-clinic-s-findings-is-it-overlooked
#16
Kadriye Erkan Turan, Hande Taylan Sekeroglu, Irem Koc, Meltem Kilic, Ali S Sanac
PURPOSE: To determine the frequency of abnormal head position (AHP) and identify the underlying causes in patients who presented to an ophthalmology clinic due to any ophthalmologic complaint. METHODS: The medical records of patients who presented with any ophthalmologic symptoms during a 6-month period were prospectively evaluated. In all, 2,710 patients (1,492 female and 1,218 male) aged 6 months-91 years were included in the study. Each patient underwent complete ophthalmologic evaluation...
December 2, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28002560/clinical-characteristics-mutation-spectrum-and-prevalence-of-%C3%A3-land-eye-disease-incomplete-congenital-stationary-night-blindness-in-denmark
#17
Marianne N Hove, Kevser Z Kilic-Biyik, Alana Trotter, Karen Grønskov, Birgit Sander, Michael Larsen, Joseph Carroll, Torben Bech-Hansen, Thomas Rosenberg
Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28000699/absence-of-hikeshi-a-nuclear-transporter-for-heat-shock-protein-hsp70-causes-infantile-hypomyelinating-leukoencephalopathy
#18
Catalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, Helena Pihko, Anu Suomalainen, Christopher J Carroll
Genetic leukoencephalopathies are a heterogeneous group of central nervous system disorders with white matter involvement. In a Finnish patient, we identified a novel homozygous disease-causing variant in HIKESHI, c.11G>C, p.(Cys4Ser), leading to hypomyelinating leukoencephalopathy with periventricular cysts and vermian atrophy. A founder Ashkenazi-Jewish disease-causing variant recently linked Hikeshi and its heat-shock protective function to leukoencephalopathy. In our patient, clinical features of lower limb spasticity, optic atrophy, nystagmus, and severe developmental delay were similar to reported patients...
December 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27981586/gaze-evoked-nystagmus-induced-by-alcohol-intoxication
#19
Fausto Romano, Alexander A Tarnutzer, Dominik Straumann, Stefano Ramat, Giovanni Bertolini
KEY POINTS: The cerebellum is the core structure controlling gaze stability. Chronic cerebellar diseases and acute alcohol intoxication affect cerebellar function, inducing, among others, gaze instability as gaze-evoked nystagmus. Gaze-evoked nystagmus is characterized by increased centripetal eye-drift. It is used as an important diagnostic sign for patients with cerebellar degeneration and to assess the 'driving while intoxicated' condition. We quantified the effect of alcohol on gaze-holding using an approach allowing, for the first time, the comparison of deficits induced by alcohol intoxication and cerebellar degeneration...
December 16, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27979611/unilateral-posterior-canal-plugging-surgery-for-intractable-bilateral-posterior-canal-type-benign-paroxysmal-positional-vertigo
#20
Sayaka Hotta, Takao Imai, Kayoko Higashi-Shingai, Suzuyo Okazaki, Tomoko Okumura, Atsuhiko Uno, Yumi Ohta, Tetsuo Morihana, Takashi Sato, Hidenori Inohara
OBJECTIVE: To investigate the effectiveness of unilateral posterior semicircular canal (PSCC)-plugging surgery for patients with intractable bilateral PSCC-type benign paroxysmal positional vertigo (P-BPPV). METHODS: From July 2011 to December 2015, we diagnosed 136 patients with P-BPPV. Of these, 3 patients had bilateral P-BPPV, and in 2 of the 3, the condition had been refractory to conservative treatment for more than 1 year. We planned a staged PSCC-plugging surgery for these 2 patients; initially one side was treated, and the contralateral side was treated 6 months later...
December 12, 2016: Auris, Nasus, Larynx
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