Sight Beyond Limits For Rdh12

We are the parents of a six-year-old boy from Cyprus who was diagnosed with Leber congenital amaurosis (LCA) in November 2022. This rare condition is an eye disease caused by a mutation in the RDH12 gene, leading to vision loss. During the past period, we noticed some difficulties in his daily life, such as playing board games, distinguishing details in drawings and colors, and recognizing faces from a distance. Therefore, we visited three ophthalmologists in Cyprus. The first two did not identify anything significant, prescribing glasses for some degree of astigmatism. The third one identified a serious impairment in our child's retina, and upon his recommendation, we underwent more specialized examinations and genetic DNA testing to identify the specific gene responsible for the impairment. The results were cross-verified by institutes abroad, in America and the United Kingdom, and our child was found to have about 30% vision, making him an extremely rare case encountered in approximately 1 in individuals. The most shocking revelation was that research and statistics on similar cases abroad indicated that this condition causes a gradual decrease in vision, ultimately leading to complete loss during adulthood. Currently, there is no treatment available, not even for stabilizing the existing condition, although some companies in America and England are in the experimental stage of studying the RDH12 gene to discover a suitable therapy. At this stage, science has made significant progress, finding treatments for similar cases. Therefore, we hope that there will be a positive development for RDH12 in the near future, providing a better life for those affected. Our strength will forever be our child, an incredibly smart boy full of energy and vitality, who loves soccer, swimming, and painting, and is not inferior in the slightest to his peers. He is and will always be a fighter, a proud warrior. In this great battle and the long journey ahead, we decided t