Papillorenal Syndrome (PRS) is a rare, inherited disorder affecting kidney and eye development. It's important to understand the characteristics and implications of this condition.
Understanding Papillorenal Syndrome
Papillorenal Syndrome (PRS) is a congenital autosomal dominant inherited disorder that impacts kidney and eye development. This means:
- Congenital: It is present from birth.
- Autosomal Dominant: Only one copy of the affected gene is needed to express the syndrome. A parent with PRS has a 50% chance of passing it on to their child.
- Inherited Disorder: It is passed down through families via genes.
Key Features of Papillorenal Syndrome
Although the specific symptoms can vary from person to person, there are typical characteristics associated with PRS:
- Renal Hypoplasia: Underdevelopment of the kidneys.
- Optic Nerve Dysplasia: Abnormal development of the optic nerve.
These features can lead to a variety of health issues impacting both kidney function and vision.
Phenotypic Variation
It's important to note that the way PRS presents itself (the phenotype) can vary significantly between individuals, even within the same family. This means some individuals may have mild symptoms, while others may experience more severe complications.
