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      Congenital cataract – clinical and morphological aspects

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          Abstract

          Congenital cataract is one of the main causes of blindness in newborns and children. According to the World Health Organization (WHO), there are about 14 million children suffering from congenital cataract. Our study is based on 82 children, males – 46 (56.1%) and females – 36 (43.9%), with congenital cataract operated in the same ophthalmological centre in Bucharest, Romania. Of the 82 patients, 49 (59.76%) had bilateral cataract and 33 (40.24%) unilateral cataract. Clinically, the most frequent was the total cataract, followed by lamellar, nuclear and cerulean. We employed nine surgical approaches in our patients, depending on the type of intraocular lens (IOL). Morphologically, obvious changes were rendered evident at the level of anterior and posterior capsules, as well as subcapsular.

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          Most cited references36

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          Molecular genetic basis of inherited cataract and associated phenotypes.

          Congenital cataract is a leading cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents a significant proportion of cases and recently many causative genetic mutations have been identified. Inherited cataract is known to be clinically and genetically heterogeneous. Eleven clear-cut cataract phenotypes have been described. Cataract may be inherited as autosomal dominant, autosomal recessive, or X-linked recessive traits, and 12 loci and 15 specific genes associated with inherited isolated cataract have been identified to date; it is likely that more genes remain to be discovered. The identification of remaining genes will not only improve our understanding of the mechanism of cataract formation but will shed new light on the developmental biology and biochemistry of the lens. Furthermore, it is possible that some of these genes will be implicated in the more common age related cataract, which also has a genetic component to its etiology.
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            Mutations and mechanisms in congenital and age-related cataracts.

            The crystalline lens plays an important role in the refractive vision of vertebrates by facilitating variable fine focusing of light onto the retina. Loss of lens transparency, or cataract, is a frequently acquired cause of visual impairment in adults and may also present during childhood. Genetic studies have identified mutations in over 30 causative genes for congenital or other early-onset forms of cataract as well as several gene variants associated with age-related cataract. However, the pathogenic mechanisms resulting from genetic determinants of cataract are only just beginning to be understood. Here, we briefly summarize current concepts pointing to differences in the molecular mechanisms underlying congenital and age-related forms of cataract.
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              The lens capsule.

              The lens capsule is a modified basement membrane that completely surrounds the ocular lens. It is known that this extracellular matrix is important for both the structure and biomechanics of the lens in addition to providing informational cues to maintain lens cell phenotype. This review covers the development and structure of the lens capsule, lens diseases associated with mutations in extracellular matrix genes and the role of the capsule in lens function including those proposed for visual accommodation, selective permeability to infectious agents, and cell signaling.
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                Author and article information

                Journal
                Rom J Morphol Embryol
                Rom J Morphol Embryol
                RJME
                Romanian Journal of Morphology and Embryology
                Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest
                1220-0522
                2066-8279
                Jan-Mar 2020
                18 June 2020
                : 61
                : 1
                : 105-112
                Affiliations
                [1 ]PhD Student, Department of Ophthalmology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
                [2 ]Department of Ophthalmology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
                [3 ]Department of Pathology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
                [4 ]Department of Ophthalmology, Victor Babeş University of Medicine and Pharmacy, Timişoara, Romania
                [5 ]Department of Anatomy, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania
                Author notes
                Corresponding Author: Mihail Zemba Lecturer, MD, PhD, Department of OphthalmologyCarol Davila University of Medicine and Pharmacy 8 Eroilor Sanitari AvenueSector 5, 050474 BucharestRomania+40722–394 415 mhlzmb@ 123456yahoo.com
                Corresponding Author: Radu Constantin Ciuluvică Lecturer, MD, PhD, Department of AnatomyCarol Davila University of Medicine and Pharmacy 8 Eroilor Sanitari AvenueSector 5, 050474 BucharestRomania+40744–618 555 raduciuluvica@ 123456yahoo.com
                Article
                610120105112
                10.47162/RJME.61.1.11
                7728133
                32747900
                e05a8a16-7502-43a1-838f-0ed0fd63f1dc
                Copyright © 2020, Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest

                This is an open-access article distributed under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Public License, which permits unrestricted use, adaptation, distribution and reproduction in any medium, non-commercially, provided the new creations are licensed under identical terms as the original work and the original work is properly cited.

                History
                : 30 March 2020
                : 18 June 2020
                Categories
                Original Paper

                congenital cataract,genetic disease,metabolic diseases,phenotypic heterogeneity,lens disorder

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