Karatas Ezgi, Utine Canan Asli, Lebe Banu, Kaya Mahmut
Department of Ophthalmology, Agri Ibrahim Cecen University, Faculty of Medicine, Agri, Türkiye.
Department of Ophthalmology, Dokuz Eylul University, Faculty of Medicine, Izmir Türkiye.
Beyoglu Eye J. 2024 Sep 1;9(3):172-177. doi: 10.14744/bej.2024.58224. eCollection 2024.
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.
我们报告一例疑似着色性干皮病（XP）合并黄斑发育不全的病例。一名50岁男性患者，双侧广泛存在睑球粘连样假性翼状胬肉，因视觉康复前来就诊。经皮肤科会诊和眼科检查后，诊断为疑似XP。光学相干断层扫描显示为2级黄斑发育不全。由于XP合并黄斑发育不全较为罕见，该患者被转诊进行基因检测。基因检测结果显示某些基因发生了突变，包括血色素沉着症基因HFE、COL1A2、溶酶体运输调节因子（LYST）、NF1和HMBS。已知LYST基因与黄斑发育不全有关。鉴于文献中曾报道过另一例黄斑发育不全与XP相关的病例，我们现展示本病例以分享这种罕见的关联。
