What inherited disease presents in people's 20s or 30s with serious visual impairment?

Von Hippel-Lindau Disease is an inherited condition characterized by the development of various tumors, including retinal hemangioblastomas, which often lead to serious visual impairment in individuals during their 20s or 30s. This disease is caused by mutations in the VHL gene, which plays a crucial role in regulating cell growth and survival.

People with Von Hippel-Lindau Disease can experience a range of symptoms depending on the type and location of the tumors. Retinal hemangioblastomas are particularly notable as they can cause vision problems and are one of the hallmark findings associated with this condition. The diagnosis typically involves genetic testing along with imaging studies to monitor for other tumors, such as renal cell carcinoma and pheochromocytomas, which are also associated with this syndrome.

While other conditions listed may also have implications for health, they do not primarily present with serious visual impairment in the same age group. For example, angiomyolipoma is a benign tumor often found in the kidneys and does not cause visual issues. Tuberous sclerosis involves a variety of tumors and skin lesions but is more frequently associated with other neurological symptoms. Posterior urethral valves are a congenital condition affecting urinary flow and do not lead to visual impairment.