Department of Physiology, Biomedical Center, Faculty of Medicine, University of Iceland, 101 Reykjavík, Iceland.
Department of Ophthalmology, Biomedical Center, Faculty of Medicine, University of Iceland, 101 Reykjavík, Iceland.
Genes (Basel). 2024 Sep 27;15(10):1258. doi: 10.3390/genes15101258.
BACKGROUND/OBJECTIVES: The microphthalmia-associated transcription factor () has been found to play an important role in eye development, structure, and function. The gene is responsible for controlling cellular processes in a range of cell types, contributing to multiple eye development processes. In this review, we survey what is now known about the impact of on eye structure and function in retinal disorders. Several mutations in the human and mouse gene are now known, and the effects of these on eye phenotype are addressed. We discuss the importance of in regulating ion transport across the retinal pigment epithelium (RPE) and the vasculature of the eye.
The literature was searched using the PubMed, Scopus, and Google Scholar databases. Fundus and Optical Coherence Tomography (OCT) images from mice were obtained with a Micron IV rodent imaging system.
Defects in neural-crest-derived melanocytes resulting from any mutations lead to hypopigmentation in the eye, coat, and inner functioning of the animals. While many mutations target RPE cells in the eye, fewer impact osteoclasts at the same time. Some of the mutations in mice lead to microphthalmia, and ultimately vision loss, while other mice show a normal eye size; however, the latter, in some cases, show hypopigmentation in the fundus and the choroid is depigmented and thickened, and in rare cases mutations lead to progressive retinal degeneration.
The gene has an impact on the structure and function of the retina and its vasculature, the RPE, and the choroid in the adult eye.
背景/目的：小眼畸形相关转录因子（）已被发现在眼睛发育、结构和功能中发挥重要作用。该基因负责控制多种细胞类型中的细胞过程，为多种眼睛发育过程做出贡献。在这篇综述中，我们调查了目前已知的对视网膜疾病中眼睛结构和功能的影响。现已发现人类和小鼠中的几个突变，并且解决了这些突变对眼睛表型的影响。我们讨论了在调节视网膜色素上皮（RPE）和眼睛血管中的离子转运中的重要性。
使用 PubMed、Scopus 和 Google Scholar 数据库搜索文献。使用 Micron IV 啮齿动物成像系统获得来自小鼠的眼底和光学相干断层扫描（OCT）图像。
任何突变导致神经嵴衍生的黑素细胞缺陷，导致眼睛、皮毛和动物内部功能的色素沉着减少。虽然许多突变靶向眼睛中的 RPE 细胞，但很少同时影响破骨细胞。一些突变导致小鼠出现小眼球，最终导致视力丧失，而其他小鼠则表现出正常的眼球大小；然而，在后一种情况下，在某些情况下，眼底出现色素沉着减少，脉络膜色素脱失且增厚，并且在极少数情况下，突变导致进行性视网膜变性。
基因对成年眼睛的视网膜及其血管、RPE 和脉络膜的结构和功能有影响。
