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Our interest in macular telangiectasia (MacTel) is not new. Described almost 50 years ago by J. Donald M. Gass as an entity different from Coats disease, MacTel has frequently been divided into three forms. Historically, we have defined Type 1 as a unilateral condition which is uncommon and was believed to be a variant of Coats disease. Type 2 was an acquired bilateral disease and associated with telangiectasia and eventual retinal thinning along with other abnormalities leading to markedly impaired near visual function that eventually led to central vision loss. Finally, Type III has been described as a poorly understood occlusive vascular condition, which is exceedingly rare.
So where are we today? When a disease affects a family member, it usually gets our attention. When MacTel affected family members and resources were available, a well-off family decided to take things into their own hands and fund research to better understand a disease that was affecting its family members. The Lowy Medical Research Institute was developed with the sole purpose of learning about MacTel, its natural history, the genetics of the condition, and finding a cure for this condition (Figure 1).
The Lowy Medical Research Institute has funded important meetings of clinicians and vision scientists for over a decade. The journal RETINA is fortunate in that it is now publishing selected peer-reviewed proceedings from a recent meeting sponsored by the Lowy Medical Research Institute in this special supplement to the journal RETINA. We appreciate The Lowy Medical Research Institute for supporting this publication. I must take this opportunity to thank Dr. Martin Friedlander for his scientific efforts and leadership role in helping the Lowy Medical Research Institute direct its international participants and clinical/laboratory research centers around the world toward advancing our knowledge and understanding of this condition. I think it appropriate to single out Emily Chew along with all of the MacTel project investigators and those associated with the MacTel project and our clinical trial partners at Neurotech for their role in the development of the clinical trials and analysis of results of these trials supported by the Lowy Medical Research Institute. I also want to thank Emily personally for her help in the preparation of this supplement. Finally, none of this progress would have been possible were it not for the efforts of the many clinical and laboratory investigators who have contributed to the MacTel Project over the past 13 years. With clinical trials investigating the use of neurotrophic rescue (conducted in collaboration with Neurotech) and metabolomic/genetic studies pointing to a metabolic defect, we believe we are getting closer to not only halting progression of the disease but, perhaps, to even understanding the basic underlying defect that could lead to a “cure.” Such a partnership between philanthropists and academic and private clinical research centers is a powerful approach to developing treatments for currently untreatable blinding diseases such as MacTel.
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