Genetic Counselling

Role of genetic screening in corneal and retinal dystrophies


With the advent of better and advanced genetic testing tools, genetic counselling has become of primary importance in order to help the patients make better choices and better understand the prognosis and to know what the future holds for them. Corneal dystrophies are genetic eye disorders affecting the cornea. These can lead to severe visual damage. Retinal dystrophies are genetic and progressive disorders of retina. These dystrophies affect the rods and cones of the retina resulting in either a rapid or a gradual visual loss. Sometimes these dystrophies run in the family or they can also be sporadic. Corneal and Retinal dystrophies can have either autosomal, recessive or X-linked inheritance. The phenotype of these retinal dystrophies is overlapping and sometimes the clinical data alone is not enough for proper diagnosis. A genetic test would be of utmost importance in this situation in order to have a correct diagnosis. Genetic test helps the patients to understand the gene responsible for their condition. There are lot of advantages to this like once you know the cause; it is easy to find out how far the research related to that gene has come along. Also, whether or not there is gene therapy available for that particular gene. Literature also guides the patients and the clinicians to understand the prognosis of the condition better and also to plan the treatment accordingly. Families that have affected members can plan for a healthy child with the help of genetic screening.