Soohoo Jeffrey R, McCourt Emily A, Lenahan Deborah S, Oliver Scott C N
Ophthalmic Surg Lasers Imaging Retina. 2013 Jul-Aug;44(4):398-400. doi: 10.3928/23258160-20130604-01. Epub 2013 Jun 12.
Cutis marmorata telangiectatica congenita is a well-characterized cutaneous vascular disorder with variable and rare ocular involvement. It has been reported in association with glaucoma, bilateral congenital retinal detachments, bilateral tractional retinal detachments secondary to proliferative vitreoretinopathy, and retinoblastoma. This case demonstrates novel findings of bilateral peripheral retinal vascular abnormalities and retinal nonperfusion on fluorescein angiography without retinal detachment that have not previously been described in cutis marmorata telangiectatica congenita. Laser photocoagulation was applied to areas of retinal nonperfusion with stability in the retinal pathology at follow-up examination 3 months later.
先天性大理石样皮肤血管扩张症是一种特征明确的皮肤血管疾病，眼部受累情况多样且罕见。曾有报道称其与青光眼、双侧先天性视网膜脱离、增殖性玻璃体视网膜病变继发的双侧牵拉性视网膜脱离以及视网膜母细胞瘤有关。该病例显示出双侧周边视网膜血管异常以及荧光素血管造影显示的视网膜无灌注这一新颖发现，且无视网膜脱离，此前在先天性大理石样皮肤血管扩张症中尚未有过描述。对视网膜无灌注区域进行了激光光凝治疗，3个月后的随访检查显示视网膜病变稳定。
