Who we are
Sight Beyond Limits for RDH12
About us
We are the parents of a six years old boy from Cyprus, who was diagnosed with Leber Congenital Amaurosis (LCA) in November 2022, at the age of six. This is a rare ocular disease caused by an RDH12 gene mutation leading to significant vision impairment.
During the recent period, we noticed some difficulties in our child’s daily life, such as in board games, distinguishing details in drawings and colors, as well as 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 detected a serious impairment in our child’s macula, and upon his recommendation, we underwent more specialized examinations, including a genetic DNA test to identify the specific gene responsible for the impairment.
The results were cross-verified by institutes abroad, in the United States and the United Kingdom. As a result, our child was found to have approximately 30% vision, making them an extremely rare case encountered in approximately 1 in 200,000 individuals. The most shocking revelation was that research and statistics on similar cases abroad indicated that this condition leads to a gradual reduction in vision, with complete loss expected in adulthood. Currently, there is no treatment available, not even for stabilizing the existing condition. Some companies in the United States and England are in the experimental stage of studying the RDH12 gene to discover a suitable treatment.
treatment of our child and every individual with this disease.
Thus, a significant struggle began for us. Initially, it was about managing and coming to terms with the staggering reality we faced, with all the associated emotions—denial, pain, fear, injustice—followed by a battle for research and information about the disease. And just when you feel like your world is ending and slipping away, you lift your head and stand tall. Nothing has ended; it’s just beginning.
Our strength will forever be our child, an exceptionally intelligent boy full of energy and vitality, who loves soccer, swimming, and painting, not falling behind in the slightest compared to his peers. He is and will always be a fighter, a proud warrior.
In this great struggle and the long journey ahead, we decided to create this page because, as a wise saying goes, “shared sorrow is half sorrow.”
This large family is composed of the patients themselves, their families and friends, scientists, as well as individuals interested in supporting and contributing either emotionally or practically to the realization of our common purpose.
With all of you as companions, one thing is certain: the horizons of optimism, faith, and hope open up, and like a fist, we will fight for the
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