Rare Ophthalmology News

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Retinitis Pigmentosa (RP)

Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes a progressive loss of vision.

Prevalence

20-30/100,000

66,200 - 99,300

US Estimated

102,700 - 154,050

Europe Estimated

Age of Onset

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ICD-10

H35.5

Inheritance

Autosomal dominant

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Autosomal recessive

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Mitochondrial/Multigenic

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X-linked dominant

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X-linked recessive

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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

1

The underlying mechanism involves the progressive loss of rod photoreceptor cells.

FACT

2

The first sign of RP usually is night blindness.

FACT

3

As the condition progresses, affected individuals develop tunnel vision and eventually loss of central vision.

FACT

4

RP may be caused by mutations in any of at least 50 genes.

FACT

5

Inheritance can be autosomal dominant, autosomal recessive, or X-linked.

Retinitis Pigmentosa is also known as...

Retinitis Pigmentosa

Pigmentary retinopathy

Rod-cone dystrophy

RP

Tapetoretinal degeneration

What’s your Rare IQ?

What is usually the first sign of retinitis pigmentosa?

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