先天性角化病(DKC)是一种罕见的,多系统,以皮肤等异常为特征的骨髓衰竭疾病,粘膜,神经系统,还有肺.在这里,我们报告了一例罕见的假定DKC导致右眼完全视网膜脱离和左眼严重的周边视网膜血管阻塞的病例。一名3岁男孩的右眼出现玻璃体出血和视网膜完全脱离,并计划在全麻下进行右眼玻璃体手术和左眼的详细眼科检查。由于全身检查显示贫血和明显的血小板减少症,他接受了详细的儿科检查。尽管基因检测显示没有明显的病理突变,端粒长度缩短和其他临床表现提示DKC的可能性.他的右眼有严重的增生性玻璃体视网膜病变,玻璃体手术不能实现视网膜复位,从而导致了肺结核。左眼在颞叶视网膜上有一个宽的视网膜无血管区,视网膜新生血管,和荧光素眼底血管造影上的硬渗出物,并使用双眼间接检眼镜光凝器进行激光光凝治疗。激光手术后,新血管退化,视力维持在1.0。这一罕见病例的研究结果表明,DKC可导致严重的视网膜血管阻塞,从而导致玻璃体出血和视网膜脱离。因此,早期眼底检查和早期光凝治疗很重要。
Dyskeratosis congenita (DKC) is a rare, multisystem, bone marrow failure disease characterized by abnormalities such as in the skin, mucosa, nervous system, and lungs. Here we report a rare
case of presumed DKC causing total retinal detachment in the right eye and severe peripheral retinal vascular occlusion in the left eye. A 3-year-old boy was presented with vitreous hemorrhage and total retinal detachment in the right eye and was scheduled to undergo vitreous surgery in the right eye and detailed ophthalmologic examination of the left eye under general anesthesia. Since a systemic examination revealed anemia and marked thrombocytopenia, he underwent a detailed pediatric examination. Although genetic testing revealed no significant pathologic mutations, the presence of shortened telomere length and other clinical findings suggested the possibility of DKC. His right eye had severe proliferative vitreoretinopathy, and retinal reattachment was not achieved with vitreous surgery, thus resulting in phthisis bulbi. The left eye showed a wide retinal avascular area in the temporal retina, retinal neovascularization, and hard exudates on fluorescein fundus angiography and was treated with laser photocoagulation using a binocular indirect ophthalmoscopic photocoagulator. Following laser surgery, the new blood vessels regressed, and the visual acuity was maintained at 1.0. The findings in this rare
case indicate that DKC can cause severe retinal vascular occlusion, thus leading to vitreous hemorrhage and retinal detachment. Therefore, early detection with fundus examination and early treatment with photocoagulation are important.