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Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report

BACKGROUND: Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The i...

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Autores principales: Nowińska, Anna, Chlasta-Twardzik, Edyta, Dembski, Michał, Wróblewska-Czajka, Ewa, Ulfik-Dembska, Klaudia, Wylęgała, Edward
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299585/
https://www.ncbi.nlm.nih.gov/pubmed/34301210
http://dx.doi.org/10.1186/s12886-021-02041-y
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author Nowińska, Anna
Chlasta-Twardzik, Edyta
Dembski, Michał
Wróblewska-Czajka, Ewa
Ulfik-Dembska, Klaudia
Wylęgała, Edward
author_facet Nowińska, Anna
Chlasta-Twardzik, Edyta
Dembski, Michał
Wróblewska-Czajka, Ewa
Ulfik-Dembska, Klaudia
Wylęgała, Edward
author_sort Nowińska, Anna
collection PubMed
description BACKGROUND: Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish the early characteristic corneal features of these disorders that could guide the diagnostic process. CASE PRESENTATION: The main purpose of this study was to report the differential diagnosis of a pediatric patient with bilateral anterior corneal involvement suspected of corneal dystrophy. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. Slit lamp examination results were not specific. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The early corneal characteristic features of MCD, established based on the findings of this case report, include corneal astigmatism (not specific), diffuse corneal thinning without a pattern of corneal ectasia (specific), and characteristic features on confocal microscopy (specific), including multiple, dark, oriented striae at different corneal depths. CONCLUSIONS: The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis.
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spelling pubmed-82995852021-07-28 Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report Nowińska, Anna Chlasta-Twardzik, Edyta Dembski, Michał Wróblewska-Czajka, Ewa Ulfik-Dembska, Klaudia Wylęgała, Edward BMC Ophthalmol Case Report BACKGROUND: Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish the early characteristic corneal features of these disorders that could guide the diagnostic process. CASE PRESENTATION: The main purpose of this study was to report the differential diagnosis of a pediatric patient with bilateral anterior corneal involvement suspected of corneal dystrophy. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. Slit lamp examination results were not specific. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The early corneal characteristic features of MCD, established based on the findings of this case report, include corneal astigmatism (not specific), diffuse corneal thinning without a pattern of corneal ectasia (specific), and characteristic features on confocal microscopy (specific), including multiple, dark, oriented striae at different corneal depths. CONCLUSIONS: The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis. BioMed Central 2021-07-23 /pmc/articles/PMC8299585/ /pubmed/34301210 http://dx.doi.org/10.1186/s12886-021-02041-y Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits 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/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Nowińska, Anna
Chlasta-Twardzik, Edyta
Dembski, Michał
Wróblewska-Czajka, Ewa
Ulfik-Dembska, Klaudia
Wylęgała, Edward
Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
title Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
title_full Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
title_fullStr Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
title_full_unstemmed Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
title_short Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
title_sort detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299585/
https://www.ncbi.nlm.nih.gov/pubmed/34301210
http://dx.doi.org/10.1186/s12886-021-02041-y
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