Rare Medical News
Spotlight On
Retinitis Pigmentosa (RP)
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes a progressive loss of vision.
Prevalence
1/3,000 to 1/5,000.
Age of Onset
ICD-10
H35.5
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina. Common symptoms include difficulty seeing at night and a loss of peripheral vision. RP is an inherited disorder that results from harmful changes in any one of more than 50 genes. These genes carry the instructions for making proteins that are needed in cells within the retina, called photoreceptors. Some of the mutations within genes are so severe that the gene cannot make the required protein, limiting the cell's function. Other mutations produce a protein that is toxic to the cell. Still other mutations lead to an abnormal protein that doesn't function properly. In all three cases, the result is damage to the photoreceptors.†
5 Facts you should know
FACT
The underlying mechanism involves the progressive loss of rod photoreceptor cells.
FACT
The first sign of RP usually is night blindness.
FACT
As the condition progresses, affected individuals develop tunnel vision and eventually loss of central vision.
FACT
RP may be caused by mutations in any of at least 50 genes.
FACT
Inheritance can be autosomal dominant, autosomal recessive, or X-linked.
Interest over time
Google searches
Common signs & symptoms
Abnormality of retinal pigmentation
Acanthosis nigricans
Darkened and thickened skin
Hypergonadotropic hypogonadism
Decreased testicular size
Small testicles
Gynecomastia
Enlarged male breast
Hyperinsulinemia
Current treatments
Gene therapy
Retinal transplantation
Use of a retinal prosthesis
Voretigene neparvovec-rzyl(Brand name: Luxturna)
Manufactured by Spark Therapeutics, Inc
FDA-approved indication: An adeno-associated virus vector-based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. Patients must have viable retinal cells determined by a treating physician.
Top Clinical Trials
At the time this analysis was conducted, there were no interventional clinical studies being conducted.
Top Treatments in Research
At the time this analysis was conducted, there were no treatments in development for this disease.
† National Eye Institute