Macular telangiectasia type 2: An update
Abstract
Macular telangiectasia type 2 is a genetically complex disorder with variable penetrance and expressivity. Although several causative genes have been identified, the genetic basis remains unknown in most affected individuals. Genetic and metabolomic studies have implicated dysregulated serine and lipid metabolism in disease pathogenesis. Serine deficiency promotes the accumulation of cytotoxic 1-deoxysphingolipids, which damage Müller cells, photoreceptors, and retinal pigment epithelium. Emerging evidence suggests that the retinal pigment epithelium plays a more important role in disease development than previously recognized. Macular telangiectasia type 2 has traditionally been considered a primary neurodegenerative disorder with secondary vascular abnormalities. However, optical coherence tomography angiography findings have indicated that vascular changes may occur earlier than previously appreciated and may develop in parallel with neurodegeneration rather than as a secondary consequence. Furthermore, there is a strong structure-function correlation between ellipsoid zone loss on optical coherence tomography and retinal sensitivity measured using microperimetry. This relationship supported the acceptance by the US Food and Drug Administration of ellipsoid zone loss area, a structural surrogate endpoint, for the approval of the ciliary neurotrophic factor implant (revakinagene taroretcel-Lwey) in macular telangiectasia type 2 patients. Several therapeutic strategies…
Read the paper
Related studies
- A Survey on Knowledge Graphs: Representation, Acquisition, and Applications
- Toxicity of nanomaterials
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- Halogen bonding (X‐bonding): A biological perspective
- Biofilm formation at the air–liquid interface by the Pseudomonas fluorescens SBW25 wrinkly spreader requires an acetylated form of cellulose
- Opioid Activation of Toll-Like Receptor 4 Contributes to Drug Reinforcement
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.