Jonas Children's Vision Care, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA; Department of Psychology, Columbia University, New York, New York, USA; State University of New York at Downstate Medical Center, Brooklyn, New York, USA.
Jonas Children's Vision Care, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.
Am J Ophthalmol. 2020 Oct;218:40-53. doi: 10.1016/j.ajo.2020.05.016. Epub 2020 May 21.
To characterize the progression of optical gaps and expand the known etiologies of this phenotype.
Retrospective cohort study.
Thirty-six patients were selected based on the identification of an optical gap on spectral-domain optical coherence tomography (OCT) from a large cohort of patients (N = 746) with confirmed diagnoses of inherited retinal dystrophy. The width and height of the gaps in 70 eyes of 36 patients were measured by 2 independent graders using the caliper tool on Heidelberg Explorer. Measurements of outer and central retinal thickness were also evaluated and correlated with gap dimensions.
Longitudinal analysis confirmed the progressive nature of optical gaps in patients with Stargardt disease, achromatopsia, occult macular dystrophy, and cone dystrophies (P < .003). Larger changes in gap width were noted in patients with Stargardt disease (78.1 μm/year) and cone dystrophies (31.9 μm/year) compared with patients with achromatopsia (16.2 μm/year) and occult macular dystrophy (15.4 μm/year). Gap height decreased in patients with Stargardt disease (6.5 μm/year; P = .02) but increased in patients with achromatopsia (3.3 μm/year) and occult macular dystrophy (1.2 μm/year). Gap height correlated with measurements of central retinal thickness at the fovea (r = 0.782, P = .00012). Interocular discordance of the gap was observed in 7 patients. Finally, a review of all currently described etiologies of optical gap was summarized.
The optical gap is a progressive phenotype seen in an increasing number of etiologies. This progressive nature suggests a use as a biomarker in the understanding of disease progression. Interocular discordance of the phenotype may be a feature of Stargardt disease and cone dystrophies.
描述光学间隙的进展，并扩大这种表型的已知病因。
回顾性队列研究。
根据在一个大的遗传性视网膜营养不良患者队列（N=746）中，通过光谱域光学相干断层扫描（OCT）识别到的光学间隙，选择了 36 名患者。36 名患者的 70 只眼中的间隙的宽度和高度由 2 名独立的分级员使用 Heidelberg Explorer 上的卡尺工具进行测量。还评估了外和中心视网膜厚度的测量值，并与间隙尺寸相关。
纵向分析证实了 Stargardt 病、色盲、隐匿性黄斑营养不良和 Cone 营养不良患者的光学间隙具有进展性（P<.003）。与色盲（16.2μm/年）和隐匿性黄斑营养不良（15.4μm/年）患者相比，Stargardt 病（78.1μm/年）和 Cone 营养不良（31.9μm/年）患者的间隙宽度变化更大。Stargardt 病患者的间隙高度下降（6.5μm/年；P=.02），但色盲和隐匿性黄斑营养不良患者的间隙高度增加（3.3μm/年和 1.2μm/年）。间隙高度与中央视网膜厚度在黄斑处的测量值相关（r=0.782，P=0.00012）。在 7 名患者中观察到间隙的双眼间不匹配。最后，总结了目前描述的所有光学间隙病因。
光学间隙是一种越来越多的病因所表现出的进行性表型。这种进行性特征表明其可作为理解疾病进展的生物标志物。该表型的双眼间不匹配可能是 Stargardt 病和 Cone 营养不良的一个特征。
