RPE65 Leber congenital amaurosis type 2 is a rare genetic eye disorder that affects the retina. It is caused by mutations in the RPE65 gene, which is involved in the production of a protein necessary for normal vision.

Individuals with RPE65 Leber congenital amaurosis type 2 typically experience severe visual impairment from birth or early childhood. They may have difficulty seeing in low light conditions (night blindness) and have reduced visual acuity. Other symptoms can include nystagmus (involuntary eye movements), sensitivity to light, and a lack of color vision.

Currently, there is no cure for RPE65 Leber congenital amaurosis type 2. However, there are ongoing research efforts to develop potential treatments, including gene therapy and pharmacological approaches. Gene therapy involves delivering a functional copy of the RPE65 gene to the retina, while pharmacological approaches aim to enhance the function of the mutated RPE65 protein.

Early intervention and supportive measures, such as visual aids and educational support, can help individuals with RPE65 Leber congenital amaurosis type 2 manage their visual impairment and improve their quality of life. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.