LOC100506688
Retinitis Pigmentosa (RP): An In-Depth Exploration of the Leading Cause of Inherited Blindness
Description
Retinitis pigmentosa (RP) is a group of inherited eye disorders that primarily affect the retina, the light-sensitive tissue at the back of the eye. It is characterized by a progressive degeneration of the photoreceptor cells, the rods and cones, which are responsible for vision.
Types of RP
There are several types of RP, each with its unique set of characteristics:
- Autosomal dominant RP (adRP): Inherited from one affected parent, this type manifests later in life and progresses more slowly.
- Autosomal recessive RP (arRP): Inherited from both affected parents, this type typically presents in childhood and progresses rapidly.
- X-linked RP (XLRP): Inherited through the X chromosome, this type almost exclusively affects males.
Associated Diseases
RP is often associated with other systemic conditions, including:
- Usher syndrome (RP with hearing loss)
- Bardet-Biedl syndrome (RP with obesity, kidney disease, and intellectual disability)
- Alström syndrome (RP with cardiomyopathy, obesity, and hearing loss)
Did you Know ?
Retinitis pigmentosa affects approximately 1 in 4,000 individuals worldwide, making it the most common inherited retinal degenerative disease.