In the field of ophthalmology, gene therapy has focused on hereditary retinal dystrophy, including retinitis pigmentosa. Hereditary dystrophy is a group intractable diseases for which there currently no effective treatment, and expectations are regeneration using iPS cells. recent years, results number clinical trials therapies have been reported from Europe United States. Since 2017, drugs Leb...

Thank you for inviting me to give this year’s Desmond Whyte lecture and for the President’s very kind introduction. It is a great honour to give this lecture, and particularly in Altnagelvin hospital where I spent many Wednesdays in outpatients seeing families with genetic disorders, and regularly availed of the excellent radiology service that Desmond had set up some years ago. The title of th...

This is a fine introductory text to the field of neuroradiology. The title of the book is appropriate; this work is neither too exhaustive nor too brief. We believe that the basic objectives of this work have been met: namely, a good medium-sized textbook for radiology, neurology, and neurosurgery residents. The volume will also be useful for other physicians as well as medical students interes...

Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the ...