Mercado Carmel L, Pham Brandon H, Beres Shannon, Marmor Michael F, Lambert Scott R
Byers Eye Institute at Stanford, Palo Alto, California.
Stanford University School of Medicine, Stanford, California.
J AAPOS. 2018 Dec;22(6):457-461.e4. doi: 10.1016/j.jaapos.2018.08.003. Epub 2018 Sep 20.
Retinitis pigmentosa (RP) is a group of rare inherited retinal disorders characterized by diffuse progressive degeneration of the retina that typically presents bilaterally. Unilateral RP has not often been reported in children. We present a series of cases that illustrate discrimination between unilateral and asymmetric disease and between dystrophy and acquired degeneration.
Four patients (9-15 years of age; 3 females) were referred to our institution for possible unilateral RP based on fundus appearance and unilateral symptoms. All underwent full-field electroretinography (ERG), spectral domain optical coherence tomography (SD-OCT), widefield and color fundus photography, and fundus autofluorescence (FAF) imaging. Genetic testing and a vitamin and essential fatty acids panel were also conducted in 1 patient.
Unilateral retinal degeneration was confirmed in 2 patients, whose fellow eyes showed no abnormalities on ERG or imaging. The other 2 patients were found to have highly asymmetric retinal degeneration based on ERG, wide-angle images, and repeated examinations (range, 0.3-9.8 years). Genetic testing and blood testing in 1 unilateral case were negative.
Childhood-onset "unilateral RP" remains a difficult and uncertain diagnosis. ERG testing and longitudinal and widefield fundus examination are necessary to exclude asymmetrical disease. Although unilateral degeneration may exist in some children, its inherited or acquired etiology remains poorly understood.
视网膜色素变性（RP）是一组罕见的遗传性视网膜疾病，其特征为视网膜弥漫性进行性退变，通常双眼发病。儿童单侧RP的报道并不常见。我们报告了一系列病例，以说明单侧与不对称性疾病以及营养不良与后天性退变之间的鉴别。
4例患者（年龄9 - 15岁；3名女性）因眼底表现和单侧症状被转诊至我院，怀疑患有单侧RP。所有患者均接受了全视野视网膜电图（ERG）、频域光学相干断层扫描（SD - OCT）、广角和彩色眼底照相以及眼底自发荧光（FAF）成像检查。1例患者还进行了基因检测以及维生素和必需脂肪酸检测。
2例患者确诊为单侧视网膜退变，其对侧眼的ERG或影像学检查未发现异常。另外2例患者根据ERG、广角图像和多次检查（时间跨度为0.3 - 9.8年）发现存在高度不对称的视网膜退变。1例单侧病例的基因检测和血液检测结果均为阴性。
儿童期发病的“单侧RP”仍然是一个难以确诊且不确定的诊断。ERG检测以及纵向和广角眼底检查对于排除不对称性疾病是必要 的。虽然一些儿童可能存在单侧退变，但其遗传或后天病因仍知之甚少。
