相关实验视频

Updated: Jan 11, 2026

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.1K

与IDH3A相关的视网膜缩与双边黄斑伪球瘤在一个2个月大的婴儿

Eleftheria P Mavridou1, Anna Mourgela1, Margarita Papadopoulou1

  • 1Ophthalmology, Children's Hospital "P. & A. Kyriakou", Athens, Greece.

Ophthalmic genetics
|November 18, 2025
PubMed
概括

在一个患有双边黄斑伪球瘤的婴儿身上发现了IDH3A基因的罕见遗传变异,这是一种遗传性视网膜退化形式. 这一发现扩大了已知的IDH3A相关视网膜疾病的范围.

关键词:
在 IDH3A 中.缩性缩 (英语:Atrophy atrophy) 是一种损伤.斑点性伪球瘤 (Pseudocoloboma) 是一种斑点性伪球瘤.视网膜缩症 视网膜缩症 视网膜缩症

更多相关视频

Organotypic Retinal Explant Cultures from Macaque Monkey10:32

Organotypic Retinal Explant Cultures from Macaque Monkey

Published on: August 24, 2022

1.6K
Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells09:47

Generation of Retinal Organoids from Healthy and Retinal Disease-Specific Human-Induced Pluripotent Stem Cells

Published on: December 9, 2022

4.3K

相关概念视频

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.6K