Kondo Hiroyuki, Fujimoto Kazushi, Imagawa Mamika, Oku Kazuma, Matsushita Itsuka, Hayashi Takaaki, Nagata Tatsuo
Department of Ophthalmology, University of Occupational and Environmental Health, 1-1, Iseigaoka, Yahatanishiku, Kitakyushu, 807-8555, Japan.
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Doc Ophthalmol. 2020 Jun;140(3):233-243. doi: 10.1007/s10633-019-09739-x. Epub 2019 Nov 28.
To determine the characteristics of the full-field electroretinograms (ERGs) of eyes with Stickler syndrome.
Twenty-two eyes of 14 Japanese patients from nine families with Stickler syndrome were studied. All of the patients were found to have mutations in the COL2A1 gene and had undergone ERG recordings. The ERGs from one of the two eyes were compared to 11 eyes of 11 normal control subjects who were matched by age, sex, and refractive error.
One patient had non-recordable ERGs under both scotopic and photopic conditions. For the remaining 13 patients, the amplitudes of the b-waves of the scotopic combined, rod, and cone responses were significantly smaller than those of the control subjects (P = 0.0001, P = 0.015, P = 0.0006, respectively). The implicit times of the b-wave of the scotopic combined and photopic responses were significantly prolonged (P = 0.0037 and P = 0.0126). The age was inversely and significantly correlated with the amplitudes of the scotopic combined a-wave (P = 0.0184) and b-wave (P = 0.0076) in 13 eyes. The amplitudes of the scotopic combined b-wave amplitudes were not significantly correlated with the refractive error.
The reduced or absent full-field ERGs in eyes with Stickler syndrome indicate that the physiology of the entire retina was negatively altered. The greater reduction in the ERGs with increasing age suggests that the physiological alterations of the retina are progressive.
确定患有Stickler综合征的眼睛的全视野视网膜电图（ERG）特征。
对来自9个家庭的14名日本Stickler综合征患者的22只眼睛进行了研究。所有患者均被发现COL2A1基因存在突变，并已进行ERG记录。将其中一只眼睛的ERG与11名年龄、性别和屈光不正相匹配的正常对照受试者的11只眼睛进行比较。
1例患者在暗视和明视条件下ERG均无法记录。对于其余13例患者，暗视联合、视杆和视锥反应的b波振幅明显小于对照受试者（分别为P = 0.0001、P = 0.015、P = 0.0006）。暗视联合反应和明视反应的b波潜伏时间明显延长（P = 0.0037和P = 0.0126）。在13只眼中，年龄与暗视联合a波（P = 0.0184）和b波（P = 0.0076）的振幅呈显著负相关。暗视联合b波振幅与屈光不正无显著相关性。
Stickler综合征患者眼睛的全视野ERG降低或缺失表明整个视网膜的生理功能发生了负面改变。随着年龄增长ERG降低幅度更大，表明视网膜的生理改变是进行性的。
