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      In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses

      case-report

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          Abstract

          The mucopolysaccharidoses are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intracellular and extracellular accumulation of glycosaminoglycans. Due to the mucopolysaccharidoses subtype, glycosaminoglycans can be deposited in many organs and tissues including cornea. In this report, we presented in vivo confocal microscopy and anterior segment optical coherence tomography findings in a 39-year old man with Scheie syndrome and a 41-year old woman with Morquio syndrome (Heidelberg Retina Tomograph 3 Rostock module, Germany) and reviewed the literature. On in vivo confocal microscopy, there were multiple small and larger hyperreflective deposits in the epithelium, Bowman layer and anterior stroma and abnormally shaped, elongated keratocytes with hyporeflective round structures, which might be vacuoles in the anterior-mid stroma. In anterior segment optical coherence tomography images, accumulation of glycosaminoglycans deposits lead to an increased hypereflective appearance throughout the thickened cornea.

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          Mucopolysaccharidoses and the eye.

          The mucopolysaccharidoses (MPSs) are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular accumulation of glycosaminoglycans. They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II (Hunter), MPS III (Sanfilippo), MPS IV (Morquio), MPS VI (Maroteaux-Lamy), MPS VII (Sly) and MPS IX (Natowicz). The mucopolysaccharidoses have a spectrum of systemic manifestations, including airway and respiratory compromise, skeletal deformities, intellectual and neurological impairment, cardiac abnormalities, and gastrointestinal problems. Ocular manifestations are common in the mucopolysaccharidoses and may result in significant visual impairment. Corneal opacification of varying severity is frequently seen, as well as retinopathy, optic nerve swelling and atrophy, ocular hypertension, and glaucoma. New treatment modalities for the systemic manifestations of the mucopolysaccharidoses include bone marrow transplant and enzyme replacement therapy, and have resulted in an improved prognosis in many cases. This article reviews the systemic and ocular manifestations of the mucopolysaccharidoses, as well as new treatment options, and discusses the ophthalmic management of mucopolysaccharidosis patients.
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            Morquio A syndrome: diagnosis and current and future therapies.

            Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced in the cartilage, therefore, the undegraded substrates accumulate mainly in cartilage and in its extracelluar matrix (ECM), causing direct leads to direct impact on cartilage and bone development and leading to the resultant systemic skeletal spondyloepiphyseal dysplasia. Chondrogenesis ,the earliest phase of skeletal formation that leads to cartilage and bone formation is controlled by cellular interactions with the ECM, growth and differentiation factors and other molecules that affect signaling pathways and transcription factors in a temporal-spatial manner. In Morquio A patients, in early childhood or even at birth, the cartilage is disrupted presumably as a result of abnormal chondrogenesis and/ or endochondral ossification. The unique clinical features are characterized by a marked short stature, odontoid hypoplasia, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, abnormal gait, and laxity of joints. In spite of many descriptions of the unique clinical manifestations, diagnosis delay still occurs. The pathogenesis of systemic skeletal dysplasia in Morquio A syndrome remains an enigmatic challenge. In this review article, screening, diagnosis, pathogenesis and current and future therapies of Morquio A are discussed.
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              In Vivo Microstructural Analysis of the Cornea in Scheie's Syndrome

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                Author and article information

                Journal
                Turk J Ophthalmol
                Turk J Ophthalmol
                TJO
                Turkish Journal of Ophthalmology
                Galenos Publishing
                2149-8695
                2149-8709
                June 2020
                27 June 2020
                : 50
                : 3
                : 183-186
                Affiliations
                [1 ]Selçuk University Faculty of Medicine, Department of Ophthalmology, Konya, Turkey
                Author notes
                * Address for Correspondence: Selçuk University Faculty of Medicine, Department of Ophthalmology, Konya, Turkey Phone: +90 536 06 52 07 E-mail: drkarakucuk83@ 123456gmail.com
                Author information
                https://orcid.org/0000-0001-6430-2233
                https://orcid.org/0000-0002-9847-3521
                https://orcid.org/0000-0001-7229-6873
                https://orcid.org/0000-0002-9491-1459
                Article
                39760
                10.4274/tjo.galenos.2020.53503
                7338749
                32631021
                b8835d0b-1ffc-4402-9d46-31e1c83b03cc
                © Copyright 2020 by Turkish Ophthalmological Association | Turkish Journal of Ophthalmology, published by Galenos Publishing House.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 1 September 2019
                : 2 January 2020
                Categories
                Case Report

                in vivo confocal microscopy,mucopolysaccharidoses,morquio syndrome,scheie syndrome

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