460ABCA4

Beau J Fenner1, S Scott Whitmore2, Adam P DeLuca2

  • 1The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa; Singapore National Eye Centre; Singapore Eye Research Institute; and Ophthalmology and Visual Sciences Academic Clinical Programme, SingHealth Duke-NUS Academic Medical Centre, Duke-NUS Graduate Medical School, Singapore, Republic of Singapore.

Ophthalmology
|February 3, 2024
PubMed
概括

与ABCA4相关的视网膜疾病存在很大差异,从早期出现的光感受器问题到晚期出现的RPE状况. 临床发现往往比基因型更好地预测疾病的进展,这是由于修饰因素和独特的患者基因型.