Ziccardi Lucia, Giannini Daniela, Lombardo Giuseppe, Serrao Sebastiano, Dell'Omo Roberto, Nicoletti Annalisa, Bertelli Matteo, Lombardo Marco
Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy; Department of Statistical Sciences, University of Rome "La Sapienza", Rome, Italy.
Am J Ophthalmol. 2015 Aug;160(2):301-312.e6. doi: 10.1016/j.ajo.2015.04.024. Epub 2015 Apr 20.
To examine a female subject, her father, and a brother harboring a missense mutation of the retinitis pigmentosa 1-like 1 (RP1L1) gene, over 2 years of follow-up.
Observational case series.
setting: Fondazione G.B. Bietti IRCCS, Rome, Italy.
RP1L1 family members and controls.
Images of the cone mosaic acquired with an adaptive optics retinal camera, spectral-domain optical coherence tomography (SD OCT), and full-field and multifocal electroretinography (mfERG).
In the proband, best-corrected visual acuity (≤0.7 logMAR) was stable in both eyes during follow-up, though analysis of adaptive optics images showed decreased cone density in the central 9 degrees from the fovea with respect to controls (P < .05) and cone density loss in the parafoveal area (2 degrees; <12%-16%) during follow-up. Texture analysis of SD OCT images identified abnormalities of the ellipsoid zone in the central 7 degrees, while mfERG response amplitudes were reduced only in the central 5 degrees relative to controls. In the proband's father, who had 0.0 logMAR visual acuity, significant cone loss was found in the central 7 degrees from the fovea (P < .05); abnormal SD OCT and mfERG values with respect to controls were found in corresponding retinal areas. No defects in the cone structure and function were found in the proband's brother, who had 0.0 logMAR visual acuity.
Occult macular dystrophy was diagnosed based on genetic and multimodal ophthalmic findings. The quantitative assessment of photoreceptor survival or loss, based on analysis of adaptive optics retinal images, was valuable to monitor disease progression at a cellular level.
对一名携带视网膜色素变性1样1（RP1L1）基因错义突变的女性受试者、其父亲和一名兄弟进行超过2年的随访研究。
观察性病例系列。
地点：意大利罗马的GB比耶蒂基金会IRCCS。
RP1L1家族成员和对照组。
使用自适应光学视网膜相机、光谱域光学相干断层扫描（SD OCT）以及全视野和多焦视网膜电图（mfERG）获取的视锥细胞镶嵌图像。
在该先证者中，随访期间双眼最佳矫正视力（≤0.7 logMAR）保持稳定，不过对自适应光学图像的分析显示，与对照组相比，中心凹周围9度范围内的视锥细胞密度降低（P <.05），且随访期间旁中心凹区域（2度；<12%-16%）的视锥细胞密度有所损失。SD OCT图像的纹理分析确定了中心7度范围内椭圆体带的异常，而mfERG反应幅度仅在中心5度范围内相对于对照组有所降低。在该先证者视力为0.0 logMAR的父亲中，发现中心凹周围7度范围内存在明显的视锥细胞损失（P <.05）；在相应的视网膜区域发现相对于对照组而言异常的SD OCT和mfERG值。在该先证者视力为0.0 logMAR的兄弟中，未发现视锥细胞结构和功能缺陷。
基于基因和多模式眼科检查结果诊断出隐匿性黄斑营养不良。基于自适应光学视网膜图像分析对视锥细胞存活或损失进行定量评估，对于在细胞水平监测疾病进展具有重要价值。
