Meyer Benjamin I, Liao Albert, Sanda Gregory E, Craven Caroline, Wells Jill R, Hendrick Andrew M, Yan Jiong, Jain Nieraj
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Road, NE, Suite 2400, Atlanta, GA, 30322, USA.
Graefes Arch Clin Exp Ophthalmol. 2024 Mar;262(3):777-788. doi: 10.1007/s00417-023-06284-x. Epub 2023 Oct 25.
To evaluate the clinical characteristics of congenital rubella retinopathy (CRR) with modern fundus imaging.
Single-center case series. Eleven patients (2005-2020) at the Emory Eye Center with known or presumed CRR. Trained image readers reviewed fundus imaging (color fundus photography, widefield pseudocolor imaging, near-infrared reflectance imaging, autofluorescence imaging, and spectral-domain optical coherence tomography) for pre-specified features suggestive of CRR.
Eleven patients with confirmed (63.6%) or presumed (36.3%) CRR were identified. All were female with median (range) age of 53 (35-67) years. Six (54.5%) were born during the 1964-1965 United States rubella epidemic. All had congenital hearing loss. Two (18.2%) had a congenital heart defect. Eleven (50.0%) eyes had salt-and-pepper retinal pigmentary changes. Twenty-two eyes (100.0%) had irregularly distributed regions of speckled hypoautofluorescence. One eye (4.5%) had a presumed macular neovascularization.
Modern fundus imaging demonstrates characteristic features of CRR, even when pigmentary changes are not readily apparent on examination. Widefield autofluorescence findings of irregularly distributed speckled hypoautofluorescence are particularly revealing. This series of newly diagnosed adults with CRR may represent the milder end of the phenotypic spectrum of this condition, highlighting imaging findings that may aid in diagnostically challenging cases of CRR.
运用现代眼底成像技术评估先天性风疹视网膜病变（CRR）的临床特征。
单中心病例系列研究。埃默里眼科中心11例患者（2005 - 2020年），已知或疑似患有CRR。训练有素的图像阅片者对眼底成像（彩色眼底照相、广角伪彩色成像、近红外反射成像、自发荧光成像和光谱域光学相干断层扫描）进行检查，以寻找提示CRR的预先指定特征。
确定了11例确诊（63.6%）或疑似（36.3%）CRR的患者。所有患者均为女性，年龄中位数（范围）为53岁（35 - 67岁）。其中6例（54.5%）出生于1964 - 1965年美国风疹流行期间。所有患者均有先天性听力损失。2例（18.2%）有先天性心脏缺陷。11只眼（50.0%）有椒盐样视网膜色素改变。22只眼（100.0%）有散在分布的斑点状低自发荧光区域。1只眼（4.5%）疑似有黄斑新生血管形成。
现代眼底成像显示了CRR的特征性表现，即使在检查时色素改变不明显。广角自发荧光检查发现的散在分布的斑点状低自发荧光特别具有诊断价值。这一系列新诊断的成年CRR患者可能代表了该病表型谱的较轻一端，突出了有助于诊断具有挑战性的CRR病例的影像学表现。
