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Case Report
Posterior embryotoxon in xeroderma pigmentosum: A case report
1 Department of Ophthalmology A – Hôpital des spécialités, Rabat, Morocco
2 Faculty of Medicine and Pharmacy of Rabat, Mohammed V University of Rabat, Morocco
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Loubna El Kaissoumi
40 BIR Rami Est., 14000 Kenitra,
Morocco
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Article ID: 100028Z17LK2022
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El Kaissoumi L, Mrini B, Lazrek O, Boutimzine N, Cherkaoui LO. Posterior embryotoxon in xeroderma pigmentosum: A case report. J Case Rep Images Opthalmol 2022;5:100028Z17LK2022.ABSTRACT
Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease due to an abnormality in the system of the nucleotide excision repair. Posterior embryotoxon is a corneal abnormality manifested as a thickening of the Schwalbe’s line, and that may appear like a thin gray-white ridge in the inner part of the cornea.
Case Report: We describe the case of a 28-year-old man referred from dermatology department for a routine eye examination, which revealed the presence of a posterior embryotoxon. To the best of our knowledge, posterior embryotoxon has never been reported among patients with xeroderma pigmentosum. Furthermore, there was no corneal abnormality and the architecture of the iris was normal in both eyes, without any defect, polycoria, corectopia, or coloboma. Macula’s examination revealed a bilateral foveal hypoplasia.
Conclusion: Our case report tends to describe the possible association between posterior embryotoxon and xeroderma pigmentosum. The main limitation of our study is due to the lack of genetic testing and counseling after ascertainment of posterior embryotoxon.
Keywords: Posterior embryotoxon, Xeroderma pigmentosum
SUPPORTING INFORMATION
Author Contributions
Loubna El Kaissoumi - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Basma Mrini - Analysis of data, Drafting the article, Final approval of the version to be published
Omar Lazrek - Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Nourreddine Boutimzine - Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Lalla Ouafae Cherkaoui - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Loubna El Kaissoumi et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
