Leber Congenital Amaurosis (LCA) is a rare genetic disorder that affects the retina, the light-sensitive tissue at the back of the eye. It is typically present from birth and causes severe visual impairment or blindness. LCA is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.
Individuals with LCA often experience severe vision loss, reduced visual acuity, and sensitivity to light. They may also have nystagmus (involuntary eye movement) and difficulty with color vision. The condition is caused by mutations in various genes that are essential for the normal development and function of the retina.
Although there is currently no cure for LCA, ongoing research and advancements in gene therapy offer hope for potential treatments. Gene therapy aims to correct the underlying genetic mutations and restore vision. Early diagnosis and intervention are crucial in managing the condition and maximizing visual potential.
Individuals with LCA may benefit from low vision aids, orientation and mobility training, and educational support tailored to their specific needs. It is important for affected individuals and their families to work closely with healthcare professionals and support organizations to navigate the challenges associated with LCA.