retinitis pigmentosa 42

Retinitis Pigmentosa: A Group of Genetic Disorders

Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina's ability to respond to light, causing a slow loss of vision [1]. This condition involves the eye's retina and is characterized by progressive visual problems, including irregular retina pigmentation [4].

Key Features:

• Trouble with night vision is an early symptom [2]
• Progressive loss of night and peripheral vision [7]
• Can lead to legal and sometimes complete blindness [7]
• Affects the retina, causing a slow loss of vision [1]

Causes and Effects:

Retinitis pigmentosa is caused by genetic variants that affect the eye's retina. This condition can cause progressive deterioration of the retina, leading to loss of sight [8]. The symptoms of RP can vary from person to person, but it often starts with trouble seeing in low light conditions.

References: [1] Nov 11, 2024 — Retinitis pigmentosa is a group of genetic disorders that affect the retina's ability to respond to light, causing a slow loss of vision. [2] Retinitis pigmentosa (RP) is the term for a group of inherited eye diseases (IRDs) that affect the retina. An early symptom is trouble with night vision. [4] Retinitis pigmentosa is a group of inherited eye diseases that cause visual problems, including irregular retina pigmentation. Learn more at UVA Health. [7] is an inherited retinal disease causing progressive loss of night and peripheral vision. The condition often leads to legal and sometimes complete blindness. [8] Nov 6, 2024 — Retinitis pigmentosa (RP) is a large group of inherited vision disorders that cause progressive deterioration of the retina, the light sensitive ...

Common Signs and Symptoms of Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that affect the retina's ability to respond to light. The symptoms of RP can vary from person to person, but there are some common signs and symptoms that are often associated with this condition.

• Night Blindness: One of the earliest and most common symptoms of RP is night blindness, which makes it difficult for people to see in low-light conditions [1]. This symptom can become apparent in childhood or adolescence.
• Loss of Peripheral Vision: As RP progresses, people may experience a gradual loss of peripheral (side) vision, also known as tunnel vision [6][7]. This can make it difficult to see objects or people outside of the central visual field.
• Reduced Vision in Poor Lighting: People with RP may have difficulty seeing in poor lighting conditions, such as shadows or dimly lit rooms [3].
• Blind Spots: Some people with RP may experience blind spots in their peripheral vision, which can be a sign of advanced disease [1].

Other Possible Symptoms

In addition to the above symptoms, some people with RP may also experience:

• Narrowing of the retinal arterioles
• Cystoid macular edema
• Waxy yellow appearance of the disk
• Posterior subcapsular cataracts
• Cystic macular lesions

It's essential to note that not everyone with RP will experience all of these symptoms, and the severity and progression of the disease can vary significantly from person to person.

References: [1] Context result 1: "Problems with night vision. · Problems seeing in dim light. · Blind spots in peripheral (side) vision." [3] Context result 3: "Reduced vision in poor lighting or dark conditions, or in shadows · Reduced ability to see objects in the..." [6] Context result 6: "Loss of night vision. Night blindness is when you cannot see anything in the dark. · Gradual loss of peripheral (..." [7] Context result 7: "Signs and symptoms of RP may include loss of night vision (night blindness), gradual loss of side (peripheral) vision (tunnel vision) where..."

Diagnostic Tests for Retinitis Pigmentosa

Retinitis pigmentosa (RP) can be diagnosed through a combination of clinical evaluation, medical history, and various diagnostic tests. Here are some of the key tests used to diagnose RP:

• Electroretinogram (ERG): This is considered the most critical diagnostic test for RP. It measures the electrical activity of the retina in response to light, providing an objective measure of rod and cone function across the retina [5][6].
• Visual field testing: This helps measure your side vision and find any blind spots that may be developing. It's useful in monitoring the progression of disease and documenting the status of legal blindness [4].
• Optical coherence tomography (OCT): This imaging test takes special, highly detailed pictures of your retina, which can help diagnose RP and show how it's affecting your retina [2][7].
• Electrooculogram (EOG): This measures the standing potential between the front and back of the eye, providing information on the function of the retinal pigment epithelium [4].
• Fundus autofluorescence (FAF) imaging: In this test, blue light is used to take a picture of the retina, which can help detect changes in the retina associated with RP [10].

These tests are often used in combination to confirm the diagnosis of RP. A comprehensive eye examination by an ophthalmologist or optometrist will also be performed to assess the overall health of your eyes.

References: [2] - Optical coherence tomography [4] - Visual field testing and Electrooculogram (EOG) [5] - Electroretinogram (ERG) [6] - Electroretinograms help confirm the diagnosis by demonstrating attenuated rod and cone signals. [7] - The diagnosis of RP is based on peripheral visual field loss, pigment deposits in fundus, loss of photoreceptors at the optical coherence tomography (OCT) scan [10] - Fundus autofluorescence (FAF) imaging

Current Drug Treatments for Retinitis Pigmentosa

While there is no cure for retinitis pigmentosa (RP), several drug treatments are being developed and researched to slow down or halt the progression of the disease. According to search results, over 100 drugs are in development for RP, with 50% of them being Advanced Therapy Medicinal Products (ATMPs) [1].

Some of the leading candidates include:

• Gene therapies such as AGN-151597, GS-030, and VMCO-1
• Human stem cell therapies

Additionally, researchers have identified several promising molecules, including N-acetylcysteine-amide (NACA), which is being developed by the Foundation Fighting Blindness to treat RP, Usher syndrome, and related conditions [3].

Approved Treatments

One notable approved treatment for a specific type of retinitis pigmentosa is Luxturna, a gene therapy product that has been approved by the FDA to treat patients with confirmed biallelic RPE65 mutations [7]. Another approved treatment is voretigene neparvovec-ryzl (Luxturna), which was developed by Spark Therapeutics and approved in 2017 by the U.S. Food and Drug Administration [2].

Emerging Treatments

Researchers are also exploring other emerging treatments, including:

• Neuroprotective agent therapy, which has shown potential to slow down the progression of RP in early stages of the disease [6]
• Gene therapies that improve vision in patients with retinitis pigmentosa, such as MCO-010, which doesn't require any external device or high-intensity light stimulation [11]

Other Options

While these treatments show promise, it's essential to note that there is no cure for RP. However, doctors are working hard to find new treatments that can slow down vision loss and may even restore some sight. Some options include:

• Acetazolamide
• Stem cell therapy, which holds significant promise for the treatment of RP [13]

References:

[1] Context result 4: "There is no cure and treatment options are limited."

[2] Context result 2: "Luxturna was developed by Spark Therapeutics and approved in 2017 by the U.S. Food and Drug Administration."

[3] Context result 3: "The Foundation Fighting Blindness is investing up to $7.5 million to advance the promising, emerging drug for retinitis pigmentosa, Usher syndrome, and related conditions."

[6] Context result 6: "To sum up, neuroprotective agent therapy has the potential to slow the progression of RP in early stages of the disease."

[7] Context result 8: "A gene therapy product that has been approved by the FDA to treat patients with confirmed biallelic RPE65 mutations."

[11] Context result 11: "MCO-010 is not the

The differential diagnosis for retinitis pigmentosa (RP) involves considering other conditions that may present with similar symptoms. According to the available information, the following are some of the conditions that should be considered in the differential diagnosis of RP:

• Traumatic retinopathy: This condition can cause damage to the retina due to trauma or injury, and may present with similar visual field defects as RP [7].
• Retinal inflammatory diseases: Conditions such as birdshot choroidoretinopathy, serpiginous retinopathy, multifocal placoid pigment epitheliopathy, and sarcoidosis can all cause inflammation in the retina and may be mistaken for RP [4].
• Autoimmune paraneoplastic retinopathy: This is a rare condition where an autoimmune response causes damage to the retina, often associated with cancer. It can present with similar visual symptoms as RP [7].
• Drug-induced retinal toxicity: Certain medications can cause damage to the retina, leading to visual field defects and other symptoms that may be mistaken for RP.

It's worth noting that a thorough examination and diagnostic testing are necessary to rule out these conditions and confirm a diagnosis of RP. The differential diagnosis for RP can also be further refined by age of onset, with some individuals being diagnosed in early adulthood [8].

References: [4] C Hamel · 2006 · Cited by 1255 [7] Aug 29, 2024 [8] Feb 10, 2022