PDF(Pubmed)
Abstract：
A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (CHST6) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.
摘要：
一个年轻的a呈现无痛，双眼视力逐渐缩小（BE）。裂隙灯检查显示右眼存在单个中央角膜混浊，左眼(LE)存在多个大小不同的角膜混浊，仅限于角膜前-中基质。微角膜中央角膜厚度减少，鼻下虹膜缺损伴下底缺损，保留椎间盘和黄斑，在BE中注明。诊断为BE黄斑营养不良（MCD）和虹膜本底缺损（IFC）。患者接受了LE无缝线前板层治疗性角膜移植术。在组织病理学检查中，切除的角膜组织显示基质板层混乱，胶体铁染色阳性，强烈暗示MCD。全外显子组测序显示可能存在致病性碳水化合物磺基转移酶6（CHST6）突变，确认MCD的诊断。IFC与角膜基质营养不良的并发存在以前在文献中没有报道。据我们所知.
