ISSN: 2459-1777 | E-ISSN 2587-0394
Volume : 9 Issue : 4 Year : 2024
Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report [Beyoglu Eye J]
Beyoglu Eye J. 2024; 9(3): 172-177 | DOI: 10.14744/bej.2024.58224

Foveal Hypoplasia in Presumed Xeroderma Pigmentosum: A Case Report

Ezgi Karatas1, Canan Aslı Utine2, Banu Lebe3, Mahmut Kaya4
1Department of Ophthalmology, Agri Ibrahim Cecen University, Faculty of Medicine, Agri, Türkiye
2Department of Ophthalmology, Dokuz Eylul University, Faculty of Medicine, Izmir Türkiye
3Department of Pathology, Dokuz Eylül University, Faculty of Medicine, Izmir, Türkiye
4Private Practice, Izmir, Türkiye

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 dermatol-ogy 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.

Keywords: Foveal hypoplasia, LYST gene, Xeroderma pigmentosum

Corresponding Author: Canan Aslı Utine, Türkiye
Manuscript Language: English
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