Schatz Patrik, Abdalla Elsayed Maram E A, Khan Arif O
a Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.
b Department of Ophthalmology, Clinical Sciences , Scane County University Hospital, University of Lund , Lund , Sweden.
Ophthalmic Genet. 2017 Sep-Oct;38(5):459-464. doi: 10.1080/13816810.2017.1289543. Epub 2017 Mar 1.
Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases.
Retrospective case series.
Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous mutation c.1A>G (p.Met1?) in CABP4 were examined. The ages ranged between 9 and 16 years at last follow-up, and the duration of follow-up ranged from 2 to 12 years. Foveal thickness was reduced ranging between 175 and 212 micrometers. Wide field imaging including fundus autofluorescence was unremarkable. All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, there was no electroretinographic indication of any progressive retinal dysfunction.
Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up.
尚未有关于与CABP4相关视网膜病变的多模态成像报道。在本研究中，我们描述了5例经基因确诊病例的光学相干断层扫描（OCT）和眼底自发荧光检查结果。
回顾性病例系列研究。
对4例携带先前描述的纯合沙特CABP4奠基者突变c.81_82insA（p.Pro28ThrfsX44）的患者和1例携带CABP4纯合突变c.1A>G（p.Met1?）的患者进行了检查。末次随访时年龄在9至16岁之间，随访时间为2至12年。黄斑中心凹厚度减少，范围在175至212微米之间。包括眼底自发荧光在内的广角成像未见明显异常。所有患者的视网膜电图均为阴性，伴有不同程度的视锥和视杆功能障碍。在随访过程中，视网膜电图未显示任何进行性视网膜功能障碍。
黄斑中心凹变薄是CABP4视网膜病变的一个特征。正常的自发荧光与视网膜内层功能障碍一致，提示该疾病可能适合基因治疗。在整个随访过程中，视网膜功能障碍保持稳定。
