This is a retrospective review of records of five patients with CEP290-LCA. Patients had comprehensive ophthalmic evaluations. Visual function was assessed with full-field electroretinograms (ffERGs) and full-field sensitivity testing (FST). Multimodal imaging was performed with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation wavelengths.
All patients showed relative structural preservation of the foveal and near midperipheral retina separated by a pericentral area of photoreceptor loss. Yellow-white, fleck-like lesions in an annular distribution around the near midperiphery co-localized with hyperreflective lesions on SD-OCT. The lesions located between the inner segment ellipsoid signal and the apical retinal pigment epithelium (RPE). The inner retina was normal. Longitudinal observations in one of the patients indicates the abnormalities may represent an intermediate stage in the degenerative process between the near normal appearing retina previously documented in young CEP290-LCA patients and the pigmentary retinopathy observed along the same region in older individuals.
We speculate that fleck-like lesions in CEP290-LCA correspond to malformed, rudimentary or degenerated, including shed, photoreceptor outer segments. The topography and possible origin of the abnormalities may inform the planning of evolving genetic therapies for this disease.
UNASSIGNED:这是对5例CEP290-LCA患者记录的回顾性回顾。患者进行了全面的眼科评估。通过全场视网膜电图(ffERG)和全场敏感性测试(FST)评估视觉功能。使用谱域光学相干断层扫描(SD-OCT)进行多模态成像,具有短(SW)和近红外(NIR)激发波长的眼底自发荧光(FAF)。
UNASSIGNED:所有患者均表现出中央凹和中游视网膜的相对结构保留,并被感光体丢失的中央周围区域分开。黄色-白色,在SD-OCT上,在近中周周围呈环状分布的片状病变与高反射病变共定位。病变位于内段椭圆形信号和顶端视网膜色素上皮(RPE)之间。内部视网膜正常。对其中一名患者的纵向观察表明,异常可能代表了退化过程的中间阶段,即先前在年轻的CEP290-LCA患者中记录的接近正常的视网膜和在老年个体中在同一区域观察到的色素性视网膜病变之间。
UASSIGNED:我们推测CEP290-LCA中的片状病变对应于畸形,初级或退化,包括棚子,感光体外段。异常的地形和可能的起源可能会为该疾病的遗传疗法的发展规划提供信息。