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      Management of nystagmus in children: a review of the literature and current practice in UK specialist services

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          Abstract

          Nystagmus is an eye movement disorder characterised by abnormal, involuntary rhythmic oscillations of one or both eyes, initiated by a slow phase. It is not uncommon in the UK and regularly seen in paediatric ophthalmology and adult general/strabismus clinics. In some cases, it occurs in isolation, and in others, it occurs as part of a multisystem disorder, severe visual impairment or neurological disorder. Similarly, in some cases, visual acuity can be normal and in others can be severely degraded. Furthermore, the impact on vision goes well beyond static acuity alone, is rarely measured and may vary on a minute-to-minute, day-to-day or month-to-month basis. For these reasons, management of children with nystagmus in the UK is varied, and patients report hugely different experiences and investigations. In this review, we hope to shine a light on the current management of children with nystagmus across five specialist centres in the UK in order to present, for the first time, a consensus on investigation and clinical management.

          摘要

          眼球震颤是一种眼球运动障碍以单眼或双眼异常的、不自主的节律性摆动为特征, 其发病缓慢。在英国的发病率不低, 通常就诊于小儿眼科和成人普通/斜视门诊。眼球震颤在某些情况下单发, 也可伴发多系统疾病、严重视力损害或神经系统疾病。同样, 在一些病例中, 患者视力正常, 另一些病例中, 患者视力严重下降。而且其对视力的影响远超过对静态视敏度的影响, 几乎检测不到, 而且可能在每分钟、每天或每月的基础上不断变化。基于以上原因, 在英国, 针对儿童眼球震颤的管理是多样的, 而且患者的症状与调查报告也有很大的差别。我们希望本文能从英国五个专科中心的眼球震颤儿童的现行的管理有所启发, 以便首次达成调查与临床管理共识。

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          Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?

          To characterize and grade the spectrum of foveal hypoplasia based on different stages of arrested development of the fovea. Grading was performed using morphologic findings obtained by ultra high-resolution spectral-domain optical coherence tomography. Best-corrected visual acuity (BCVA) was calculated for different grades. Observational case series. Sixty-nine patients with foveal hypoplasia (albinism, n = 34; PAX6 mutations, n = 10; isolated cases, n = 14; achromatopsia, n = 11) and 65 control subjects were examined. A 7×7-mm retinal area was sampled using a 3-dimensional scanning protocol (743×75, A scans×B scans) with ultra high-resolution spectral-domain optical coherence tomography (SOCT Copernicus HR; 3-μm axial resolution). Gross morphologic abnormalities were documented. B-scans at the fovea were segmented using a longitudinal reflectivity profile. Logarithm of the minimum angle of resolution BCVA was obtained. Grading was based on presence or absence of foveal pit and widening of the outer nuclear layer (ONL) and outer segment (OS) at the fovea. Quantitative measurements were obtained for comparing atypical foveal hypoplasia in achromatopsia. Best-corrected visual acuity was compared with the grade of foveal hypoplasia. Four grades of foveal hypoplasia were distinguished: grade 1, shallow foveal pit, presence of ONL widening, presence of OS lengthening; grade 2, grade 1 but absence of foveal pit; grade 3, grade 2 but absence of OS lengthening; grade 4, grade 3 but absence of ONL widening. There was significant difference in visual acuity (VA) associated with each grade (P<0.0001). Grade 1 was associated with the best VA (median VA, 0.2), whereas grades 2, 3, and 4 were associated with progressively poorer VA with a median VA of 0.44, 0.60, and 0.78, respectively. The atypical features seen with foveal hypoplasia associated with achromatopsia were characterized by decreased retinal and ONL thickness and deeper foveal depth. A structural grading system for foveal hypoplasia was developed based on the stage at which foveal development was arrested, which helps to provide a prognostic indicator for VA and is applicable in a range of disorders associated with foveal hypoplasia. Atypical foveal hypoplasia in achromatopsia shows different characteristics. The author(s) have no proprietary or commercial interest in any materials discussed in this article. Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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            The prevalence of nystagmus: the Leicestershire nystagmus survey.

            Nystagmus, which can be infantile (congenital) or acquired, affects all ages. The prevalence of nystagmus in the general population is unknown. New genetic research and therapeutic modalities are emerging. Previous estimates have been based on wider ophthalmic epidemiologic studies within specific occupational or age groups. The authors carried out the first epidemiologic study to specifically establish the prevalence of nystagmus in Leicestershire and Rutland in the United Kingdom. Three independent data sources identified persons with nystagmus from the hospital and community. The first was a hospital-based questionnaire and clinical survey (n = 238). The visually impaired services (n = 414) and education services (n = 193) in Leicestershire provided the second and third separately obtained community-based sources of information. Capture-recapture statistical analysis was used to estimate prevalence. The prevalence of nystagmus in the general population was estimated to be 24.0 per 10,000 population (95% confidence interval [CI], +/-5.3). The most common forms of nystagmus were neurologic nystagmus (6.8 per 10,000 population; 95% CI, +/-4.6), nystagmus associated with low vision such as congenital cataracts (4.2 per 10,000; 95% CI, +/-1.2), and nystagmus associated with retinal diseases such as achromatopsia (3.4 per 10,000 population; 95% CI, +/-2.1). Within ethnic groups, nystagmus was significantly more common in the white European population than in the Asian (Indian, Pakistani, other Asian backgrounds) population (P = 0.004). The findings suggest that nystagmus is more common in the general population than previously thought. This may be of significance in resource allocation and health care planning.
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              Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia

              Purpose Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of viable cone photoreceptors at the time of treatment. Here, we characterized residual cone structure in subjects with CNGB3-associated ACHM. Methods High-resolution imaging (optical coherence tomography [OCT] and adaptive optics scanning light ophthalmoscopy [AOSLO]) was performed in 51 subjects with CNGB3-associated ACHM. Peak cone density and inter-cone spacing at the fovea was measured using split-detection AOSLO. Foveal outer nuclear layer thickness was measured in OCT images, and the integrity of the photoreceptor layer was assessed using a previously published OCT grading scheme. Results Analyzable images of the foveal cones were obtained in 26 of 51 subjects, with nystagmus representing the major obstacle to obtaining high-quality images. Peak foveal cone density ranged from 7,273 to 53,554 cones/mm2, significantly lower than normal (range, 84,733–234,391 cones/mm2), with the remnant cones being either contiguously or sparsely arranged. Peak cone density was correlated with OCT integrity grade; however, there was overlap of the density ranges between OCT grades. Conclusions The degree of residual foveal cone structure varies greatly among subjects with CNGB3-associated ACHM. Such measurements may be useful in estimating the therapeutic potential of a given retina, providing affected individuals and physicians with valuable information to more accurately assess the risk-benefit ratio as they consider enrolling in experimental gene therapy trials. (www.clinicaltrials.gov, NCT01846052.)
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                Author and article information

                Contributors
                j.e.self@soton.ac.uk
                Journal
                Eye (Lond)
                Eye (Lond)
                Eye
                Nature Publishing Group UK (London )
                0950-222X
                1476-5454
                9 January 2020
                September 2020
                : 34
                : 9
                : 1515-1534
                Affiliations
                [1 ]GRID grid.430506.4, University Hospital Southampton, ; Southampton, UK
                [2 ]GRID grid.5491.9, ISNI 0000 0004 1936 9297, Clinical and Experimental Sciences, School of Medicine, , University of Southampton, ; Southampton, UK
                [3 ]GRID grid.5600.3, ISNI 0000 0001 0807 5670, School of Optometry and Vision Sciences, , Cardiff University, ; Cardiff, UK
                [4 ]GRID grid.9918.9, ISNI 0000 0004 1936 8411, Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, , University of Leicester, ; Leicester, UK
                [5 ]GRID grid.11835.3e, ISNI 0000 0004 1936 9262, Division of Ophthalmology and Orthoptics, Health Sciences School, , University of Sheffield, ; Sheffield, UK
                [6 ]GRID grid.413628.a, ISNI 0000 0004 0400 0454, Royal Eye Infirmary, Derriford Hospital, ; Plymouth, UK
                [7 ]Patient Representative, Plymouth, UK
                [8 ]GRID grid.439257.e, ISNI 0000 0000 8726 5837, Paediatric Ophthalmology and Strabismus, , Moorfields Eye Hospital, ; London, UK
                [9 ]GRID grid.451056.3, ISNI 0000 0001 2116 3923, National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, ; London, UK
                [10 ]GRID grid.413991.7, ISNI 0000 0004 0641 6082, Eye Department, Sheffield Children’s Hospital, ; Sheffield, UK
                Author information
                http://orcid.org/0000-0002-1030-9963
                http://orcid.org/0000-0002-0295-2182
                http://orcid.org/0000-0002-2573-9536
                Article
                741
                10.1038/s41433-019-0741-3
                7608566
                31919431
                df0af45a-cf7d-44e2-844a-ad683d0646e1
                © The Author(s) 2020

                This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.

                History
                : 18 October 2019
                : 24 November 2019
                Categories
                Review Article
                Custom metadata
                © The Royal College of Ophthalmologists 2020

                Vision sciences
                neurological disorders,ocular motility disorders
                Vision sciences
                neurological disorders, ocular motility disorders

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