From the Research
The management of choroideremia currently focuses on supportive care and monitoring, with gene therapy emerging as a promising treatment option, as evidenced by recent studies such as 1, which highlights the molecular mechanisms and therapies for choroideremia. The goal of management is to slow disease progression, manage complications, and improve quality of life. Key components of management include:
- Regular comprehensive eye examinations with specialists to track disease progression and manage complications
- Low vision aids such as magnifiers, high-contrast reading materials, and electronic devices with accessibility features to maintain functional vision
- Genetic counseling to understand inheritance patterns and reproductive options
- Protecting remaining vision by wearing UV-protective sunglasses outdoors and avoiding smoking
- Emerging therapies such as gene therapy, with AAV2-REP1 (voretigene neparvovec) showing encouraging results in clinical trials, as reported in 2 and 3 Other experimental approaches, including retinal transplantation, stem cell therapy, and neuroprotective agents, are being investigated, but their efficacy and safety are still being evaluated, as discussed in 4 and 5. A multidisciplinary approach with regular monitoring by ophthalmologists, genetic counselors, and low vision specialists is essential for optimal management of choroideremia, considering the disease's progressive nature and significant impact on quality of life, as emphasized in 1 and 3.