Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report

Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report

We present a case of presumed xeroderma pigmentosum (XP) with concomitant foveal hypoplasia. A 50-year-old male patient with extensive bilateral symblepharon-like pseudopterygia was referred for visual rehabilitation. After dermatology consultation and ophthalmologic examination, presumed XP was dia...

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Veröffentlicht in:Beyoglu Eye Journal 2024-09, Vol.9 (3), p.172-177
Hauptverfasser: Karatas, Ezgi, Utine, Canan Asli, Lebe, Banu, Kaya, Mahmut
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Case Report
Genetic aspects
Genetic screening
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container_title Beyoglu Eye Journal
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creator Karatas, Ezgi
Utine, Canan Asli
Lebe, Banu
Kaya, Mahmut
description We present a case of presumed xeroderma pigmentosum (XP) with concomitant foveal hypoplasia. A 50-year-old male patient with extensive bilateral symblepharon-like pseudopterygia was referred for visual rehabilitation. After dermatology consultation and ophthalmologic examination, presumed XP was diagnosed. Optical coherence tomography revealed grade 2 foveal hypoplasia. The patient was referred for genetic testing because concomitant XP and foveal hypoplasia are rare. The genetic test results revealed mutations in some genes, including the hemochromatosis genes HFE, COL1A2, Lysosome Trafficking Regulator (LYST), NF1, and HMBS. The LYST gene is known to be associated with foveal hypoplasia. Since the association of foveal hypoplasia and XP has been reported in another case in the literature, we present our case to share this rare association.
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Genetic aspects
Genetic screening
title Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report
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