Ophthalmology Unit, Neurosciences, Mental Health, and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, University of Rome Sapienza, 00185 Rome, Italy.
St. Andrea Hospital, Via di Grottarossa 1035/1039, 00189 Rome, Italy.
Int J Mol Sci. 2022 Jul 9;23(14):7607. doi: 10.3390/ijms23147607.
Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.
Stargardt 病是最常见的青少年黄斑营养不良。它是由 ABCA4 基因突变引起的。诊断并不总是那么简单，并且存在各种表型。晚发性疾病可能会被误诊为与年龄相关的黄斑疾病。由于新兴的基因治疗方法，正确的诊断尤为关键。Stargardt 病已知会影响视网膜色素上皮和光感受器。许多研究还强调了脉络膜在疾病的诊断、病理生理学和进展中的重要性。脉络膜与视网膜色素上皮和光感受器密切相关，在疾病过程中应考虑其可能的参与。本综述的目的是分析目前用于脉络膜评估的诊断工具，并为眼科医生和研究疾病的研究人员推断出有用的数据。
