When diagnosed with a disease or disorder, one of the first questions patients want answered is “How did I get it?”. There are many factors that may contribute to acquiring a certain condition, especially in conditions dealing with something as important as the eyes. Rhegmatogenous Retinal Detachment (RRD) is a condition where a tear in the part of the eye called the retina leads to fluid build up which can cause problems with one’s vision. With conditions like this, etiological studies can be used to determine the cause.
One question you may ask is why does it matter what caused this condition? Well, this information can be useful for many reasons. There could be an underlying condition, in which case doctors would need to examine the patient for any other, seemingly unrelated complications. If an environmental factor was the cause, preventative measures could be taken to prevent future cases. But perhaps the most important reason is that genetic information from an etiological study can be used to predict others’ chances of developing the condition, especially family members of previously diagnosed patients.
In an article posted in February of 2020, the causes of RRD in children under the age of 18 were analyzed. The patients in this study underwent a comprehensive eye examination. Over half of these patients were found to have a family history of congenital/developmental diseases, meaning abnormalities that presented at birth or in early infancy. Genetic testing was then performed on those patients to determine if there were any links between their family histories and their RRD.

This study resulted in the findings of three main causes for RRD in children.

The first being congenital/developmental diseases. In the 50% of patients who had this family background, 60.8% of them showed genetic results of Familial Exudative Vitreoretinopathy (FEVR) which is a genetic condition in which the blood vessels in the retina do not develop normally. The next factor found in this study was simple myopia, which is a condition where the eyeball is too long for the focusing power of the cornea. The third cause was previous intraocular surgery, meaning these cases of RRD were the result of a complication after an eye surgery. Even more interesting is that after a further breakdown of the patient results, the researchers found that the majority of patients under 12 years old exhibited congenital/developmental diseases as a cause, and the majority of patients over 12 years old showed simple myopia as a cause. The main conclusions that come from this article are that RRD can be genetically related, but it can also be due to other factors. It does seem that children diagnosed under the age of 12 are more likely to have an underlying genetic reason for the condition. Perhaps another study should be conducted to test this theory.

 

Chen, C., et al. (2020). Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment with Genetic Testing. https://doi.org/10.1016/j.ajo.2020.02.015