RPE65relaterte

RPE65-related disorders are a group of rare genetic conditions primarily affecting vision, caused by mutations in the *RPE65* gene. The *RPE65* gene encodes a protein essential for the production of 11-*cis*-retinal, a critical component in the visual cycle of photoreceptor cells in the retina. Without functional RPE65, photoreceptors—particularly rods and cones—cannot regenerate the light-sensitive pigment rhodopsin, leading to progressive vision loss.

The most well-known condition associated with *RPE65* mutations is Leber congenital amaurosis type 2 (LCA2), a severe form of inherited retinal dystrophy that typically presents at birth or early childhood. Symptoms include night blindness, reduced visual acuity, and progressive loss of peripheral vision. Other related disorders include retinitis pigmentosa (RP) and some forms of early-onset severe retinal degeneration. These conditions often result in blindness if untreated.

Diagnosis is confirmed through genetic testing, which identifies mutations in the *RPE65* gene. Treatment options have evolved significantly in recent years. Gene therapy, such as *Luxturna* (voretigene neparvovec-rzyl), has shown promise in restoring some vision in patients with *RPE65*-related retinal dystrophies. This therapy involves delivering a functional copy of the *RPE65* gene directly to retinal cells using an adeno-associated virus vector. While not a cure, it can slow disease progression and improve visual function in some cases.

Other supportive treatments include low-vision aids, such as magnifying devices and adaptive technologies, to help patients maximize remaining vision. Research continues to explore additional therapeutic approaches, including small-molecule activators and stem cell-based therapies, to further improve outcomes for affected individuals.

The inheritance pattern of *RPE65*-related disorders is typically autosomal recessive, meaning a child must inherit two mutated copies of the gene—one from each parent—to develop the condition. Carrier screening and prenatal testing are available for families with a known history of the disorder. Early diagnosis and intervention can help manage symptoms and improve quality of life for those affected.