Evolution of our understanding and management of monogenetic retinal disorders

Abstract

SummaryNight blindness as a hall mark of many monogenetic retinal disorders has been known for over a thousand years. Indirect evidence implies that this was due to vitamin A deficiency in some of these early descriptions. In the 18th. century it was recognised that it may be seen in families implying a genetic origin of disease. A secure diagnosis of retinitis pigmentosa became possible with the invention of the ophthalmoscope in the mid‐19th century and by 1908 Nettleship synthesised reports of over 1,000 reported cases. He generated an accurate clinical description of the disorders and there was little revision of his conclusions until the 1970's apart from early electrophysiological studies. Thereafter, there has been highly productive research that has led to identifying the causes, and pathogenetic mechanisms involved in disease, followed by early attempts at intervention. It is likely that over the next 10 years successful treatment will become available in disorders that were ill understood 40 years ago.