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      Potential Risks of Corneal Refractive Surgery in Patients with Ectodermal Dysplasia

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          Abstract

          Ectodermal dysplasia (ED) involves the aberrant development of at least two ectodermal derivatives, such as skin, teeth, hair, sweat glands, and ocular tissue. The group of over 200 conditions is commonly classified into two major types: hypohidrotic/anhidrotic ED, in which sweat glands are either absent or significantly reduced, and hidrotic ED, in which sweat glands are normal. Ocular manifestations pertinent to patients undergoing corneal vision correction surgery include multifaceted dry eye syndrome, corneal pathology, such as recurrent erosions, scars, neovascularization, and limbal stem cell deficiency, and early-onset cataracts and glaucoma. In this article we discuss the current understanding of ED and offer factors to consider when these patients are seeking corneal refractive surgery.

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          Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

          Valerie Cormier-Daire, Philippe Guigue, Géraldine Viot … (2010)
          Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, and hair. Three disease-causing genes have been hitherto identified, namely, (1) EDA1 accounting for X-linked forms, (2) EDAR, and (3) EDARADD, causing both autosomal dominant and recessive forms. Recently, WNT10A gene was identified as responsible for various autosomal recessive forms of ectodermal dysplasias, including onycho-odonto-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome. We systematically studied EDA1, EDAR, EDARADD, and WNT10A genes in a large cohort of 65 unrelated patients, of which 61 presented with HED/EDA. A total of 50 mutations (including 32 novel mutations) accounted for 60/65 cases in our series. These four genes accounted for 92% (56/61 patients) of HED/EDA cases: (1) the EDA1 gene was the most common disease-causing gene (58% of cases), (2)WNT10A and EDAR were each responsible for 16% of cases. Moreover, a novel disease locus for dominant HED/EDA mapped to chromosome 14q12-q13.1. Although no clinical differences between patients carrying EDA1, EDAR, or EDARADD mutations could be identified, patients harboring WNT10A mutations displayed distinctive clinical features (marked dental phenotype, no facial dysmorphism), helping to decide which gene should be first investigated in HED/EDA.
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            The diagnosis of limbal stem cell deficiency

            Qihua Le, Sophie X. Deng, Jianjiang Xu (2018)
            Limbal stem cells (LSCs) maintain the normal homeostasis and wound healing of corneal epithelium. Limbal stem cell deficiency (LSCD) is a pathologic condition that results from the dysfunction and/or an insufficient quantity of LSCs. The diagnosis of LSCD has been made mainly based on medical history and clinical signs, which often are not specific to LSCD. Methods to stage the severity of LSCD have been lacking. With the application of newly developed ocular imaging modalities and molecular methods as diagnostic tools, standardized quantitative criteria for the staging of LSCD can be established. Because of these recent advancements, effective patient-specific therapy for different stages of LSCD may be feasible.
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              Ectodermal Dysplasias: Classification and Organization by Phenotype, Genotype and Molecular Pathway

              Wright Timothy, Mary Fete, Holm Schneider … (2019)
              An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias that would integrate both clinical and molecular information. We propose the following, a working definition of the ectodermal dysplasias building on previous classification systems and incorporating current approaches to diagnosis: ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with ectodermal dysplasias that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non-syndromic traits of the causative gene (e.g. non-syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin” ). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g. EDA, WNT “wingless-type”, TP63 “tumor protein p63”) or the components of complex molecular structures ( e.g. connexins, keratins, cadherins).
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                Author and article information

                Contributors
                Majid Moshirfar:
                ORCID: http://orcid.org/0000-0003-1024-6250
                cornea2020@me.com
                Journal
                Journal ID (nlm-ta): Ophthalmol Ther
                Journal ID (iso-abbrev): Ophthalmol Ther
                Title: Ophthalmology and Therapy
                Publisher: Springer Healthcare (Cheshire )
                ISSN (Print): 2193-8245
                ISSN (Electronic): 2193-6528
                Publication date (Electronic): 9 May 2022
                Publication date PMC-release: 9 May 2022
                Publication date (Print): August 2022
                Volume: 11
                Issue: 4
                Pages: 1281-1289
                Affiliations
                [1 ]GRID grid.477402.2, Hoopes Vision Research Center, Hoopes Vision, ; 11820 S. State St. #200, Draper, UT 84020 USA
                [2 ]GRID grid.223827.e, ISNI 0000 0001 2193 0096, John A. Moran Eye Center, , University of Utah School of Medicine, ; Salt Lake City, UT USA
                [3 ]Utah Lions Eye Bank, Murray, UT USA
                [4 ]GRID grid.260024.2, ISNI 0000 0004 0627 4571, Arizona College of Osteopathic Medicine, Midwestern University, ; Glendale, AZ USA
                Author information
                http://orcid.org/0000-0003-1024-6250
                Article
                Publisher ID: 515
                DOI: 10.1007/s40123-022-00515-w
                PMC ID: 9253218
                PubMed ID: 35532881
                SO-VID: 0d41a0c2-5a13-45a3-9864-57d4d0a0e109
                Copyright © © The Author(s) 2022
                License:

                Open AccessThis article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.

                History
                Date received : 30 March 2022
                Date accepted : 14 April 2022
                Categories
                Subject: Commentary
                Custom metadata
                issue-copyright-statement © The Author(s) 2022

                Keywords: corneal refractive surgery,dry eye syndrome,ectodermal dysplasia,limbal stem cell deficiency,prk,lasik,smile
                Data availability:
                Keywords: corneal refractive surgery, dry eye syndrome, ectodermal dysplasia, limbal stem cell deficiency, prk, lasik, smile

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