Rho disease, more accurately understood in the context of genetics, refers to conditions caused by mutations in the RHO gene. Specifically, at least four mutations in the RHO gene have been identified as causing autosomal dominant congenital stationary night blindness (CSNB). This condition is characterized by impaired vision in low light conditions that remains stable over time.
Here's a breakdown:
- Gene: The RHO gene provides instructions for making a protein called rhodopsin. Rhodopsin is crucial for vision, particularly in low light. It is located in the rod cells of the retina.
- Mutation: A mutation in the RHO gene alters the structure or function of rhodopsin.
- Autosomal Dominant: This inheritance pattern means that only one copy of the mutated gene is needed to cause the condition. If one parent has the mutated gene, there is a 50% chance their child will inherit the condition.
- Congenital Stationary Night Blindness (CSNB): This eye disorder is present from birth (congenital) and primarily affects night vision. The vision impairment remains relatively constant (stationary) throughout life.
In summary, while not formally called "Rho disease," variations or mutations within the RHO gene are known to cause genetic conditions, specifically autosomal dominant congenital stationary night blindness. These conditions affect the production and function of rhodopsin, a crucial protein for low-light vision.
