Genetic and Molecular Analysis of Incomplete Congenital Stationary Night Blindness
N. Torben Bech-Hansen, Ph.D.
Department of Medical Genetics
University of Calgary, Calgary, Alberta
Studies in our laboratory are directed to understanding how genetic defects lead to the development of congenital stationary night blindness (CSNB), a condition that involves night blindness, short-sightedness (myopia) and other vision problems. Some individuals with CSNB are legally blind.
From earlier studies, we were able to establish that mutations in one specific gene (CACNA1F) are the cause of one form of CSNB. The CACNA1F gene produces a protein that forms a pore in the cell membrane which is able to regulate the movement of calcium ions into the nerve cells of the retina. We are interested in understanding how and where this normal calcium channel works in the retina.
We are proposing to extend our genetic studies of vision problems caused by mutations in CACNA1F. In particular, we will attempt to identify genes which work together with the CACNA1F gene to determine the degree of severity of the visual impairment seen in different individuals with CSNB. In addition, using molecular and cellular techniques, we will study which nerve cells specifically make use of this calcium channel.
From these studies, we hope to define an improved diagnostic method for detecting mutations in the CACNA1F gene, identify the choir of genes which contribute to night blindness, myopia and nystagmus (eyes that shake involuntarily), and gain a better understanding of how the retina works to bring visual signals to the brain. With this knowledge, we expect to have a better chance of identifying treatments which will reduce the severity of vision problems in individuals with CSNB.
