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      CHARGE Syndrome Associated with Angle Closure despite High Myopia: A Case Report with Structural Suggestion


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          CHARGE syndrome is associated with multiple malformations, and the main ocular abnormality is coloboma. We describe an unusual case of a 15-year-old girl with CHARGE syndrome having high intraocular pressure and narrow angle closure despite refractive high myopia (−9.0 dpt) in her left eye. Gonioscopy revealed peripheral anterior synechia (approximately 90°) in the superior quadrant of the left eye. Both eyes exhibited similar axial length (about 22 mm) and corneal curvature (about 8 mm). However, microcornea (9 mm), thicker central cornea and iris induced narrower anterior components in the left eye than in the right eye. Preventing the chance of acute primary angle closure attack, the patient underwent laser iridotomy in the left eye; however, long-term follow-up is needed. Additionally, we developed a hypothesis for the mechanism of unilateral angle closure despite high myopia by investigating the ocular structural parameters in detail.

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          Most cited references12

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          Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

          CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation. Recently, mutations of the chromodomain helicase DNA-binding protein gene CHD7 were reported to be a major cause of CHARGE syndrome. We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%). Mutations were distributed throughout the coding exons and conserved splice sites of CHD7. Of the 64 mutations, 47 (73%) predicted premature truncation of the protein. These included nonsense and frameshift mutations, which most likely lead to haploinsufficiency. Phenotypically, the mutation-positive group was more likely to exhibit cardiovascular malformations (54 of 59 in the mutation-positive group vs. 30 of 42 in the mutation-negative group; P=.014), coloboma of the eye (55 of 62 in the mutation-positive group vs. 30 of 43 in the mutation-negative group; P=.022), and facial asymmetry, often caused by seventh cranial nerve abnormalities (36 of 56 in the mutation-positive group vs. 13 of 39 in the mutation-negative group; P=.004). Mouse embryo whole-mount and section in situ hybridization showed the expression of Chd7 in the outflow tract of the heart, optic vesicle, facio-acoustic preganglion complex, brain, olfactory pit, and mandibular component of the first branchial arch. Microarray gene-expression analysis showed a signature pattern of gene-expression differences that distinguished the individuals with CHARGE syndrome with CHD7 mutation from the controls. We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation.
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            Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

            CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.
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              The eye in the CHARGE association.

              CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.

                Author and article information

                Case Reports in Ophthalmology
                S. Karger AG
                Januar - April 2020
                09 January 2020
                : 11
                : 1
                : 28-36
                [_a] aDepartment of Ophthalmology, Saneikai Tsukazaki Hospital, Himeji, Japan
                [_b] bDepartment of Ophthalmology and Visual Science, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan
                Author notes
                *Shunsuke Nakakura, MD, PhD, Department of Ophthalmology, Saneikai Tsukazaki Hospital, 68-1 Aboshi Waku, Himeji 671-1227 (Japan), E-Mail shunsukenakakura@yahoo.co.jp
                505389 PMC6984150 Case Rep Ophthalmol 2020;11:28–36
                © 2020 The Author(s). Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC). Usage and distribution for commercial purposes requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                : 05 November 2019
                : 08 December 2019
                Page count
                Figures: 4, Pages: 9
                Case Report

                Vision sciences,Ophthalmology & Optometry,Pathology
                Microcornea,CHARGE syndrome,Angle closure glaucoma,High myopia


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