retinitis pigmentosa 87

I can answer your question about Retinitis Pigmentosa (RP) based on the provided context.

What is Retinitis Pigmentosa?

Retinitis Pigmentosa (RP) is a group of inherited eye diseases that affect the retina, causing progressive vision loss. It is the most common type of inherited eye disease [1]. RP involves the degeneration of rod photoreceptors and cone photoreceptors in the retina, leading to visual impairment [4].

Symptoms of Retinitis Pigmentosa

The symptoms of RP typically include night blindness and a constriction in the visual field. In most cases, it progresses to a complete loss of vision [3]. People with autosomal dominant retinitis pigmentosa often have an inheritance pattern where one copy of an altered gene in each cell is sufficient to cause the disorder [5].

Types of Retinitis Pigmentosa

RP can be inherited in different ways, including autosomal dominant and X-linked patterns. It can also be caused by genetic variants that affect the retina [2]. The disease often manifests as a group of related eye disorders that cause progressive vision loss [6].

Age of Diagnosis

Retinitis pigmentosa is often diagnosed in childhood or adolescence, although it can occur at any age [7].

Current Research and Treatment

Researchers are testing possible new RP treatments through clinical trials. This includes clinical trials for X-linked retinitis pigmentosa [1]. However, there is currently no cure for RP.

References: [1] - Clinical Trials and Future Treatments for Retinitis Pigmentosa [2] - Description of Retinitis Pigmentosa [3] - Symptoms of Retinitis Pigmentosa [4] - Causes of Retinitis Pigmentosa [5] - Types of Retinitis Pigmentosa [6] - Age of Diagnosis for Retinitis Pigmentosa [7] - Current Research and Treatment for Retinitis Pigmentosa

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 signs and symptoms of RP can vary from person to person, but here are some common ones:

• Night blindness: Difficulty seeing in low-light conditions or at night [1][2]
• Reduced peripheral vision: Gradual loss of side (peripheral) vision, which can lead to tunnel vision [3][4]
• Loss of central vision: In advanced stages, RP can cause a gradual loss of central vision, making it difficult to see objects directly in front of you [5]
• Photophobia: Sensitivity to bright lights or discomfort when exposed to light [6]
• Flashes of light: Some people with RP may experience flashes of light or seeing "floaters" in their visual field [7]

It's essential to note that the progression and severity of these symptoms can vary significantly from person to person. If you're experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] - Search result 1: "Problems with night vision." [2] - Search result 2: "Early Symptoms: Loss of night vision and side (peripheral) vision" [3] - Search result 3: "Night blindness · Trouble adjusting to light changes or dim lighting" [4] - Search result 4: "Reduced ability to see objects in the ... peripheral areas" [5] - Search result 7: "The signs and symptoms of retinitis pigmentosa are most often limited to vision loss." [6] - Search result 11: "You might find bright lights uncomfortable -- a symptom your doctor may call photophobia." [7] - Search result 11: "You also may start to see flashes of light that ..."

Diagnostic Tests for Retinitis Pigmentosa

Retinitis pigmentosa (RP) can be diagnosed through a combination of clinical examination, 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, as it provides an objective measure of rod and cone function across the retina [5][9]. ERG measures the electrical activity of the retina in response to light.
• Optical Coherence Tomography (OCT): OCT takes detailed pictures of the retina, which can help diagnose RP and monitor its progression [2][7].
• Visual Field Testing: This test helps measure side vision and find any blind spots that may be developing due to RP [1][4]. Visual field testing is useful in monitoring the progression of disease.
• Electrooculogram (EOG): EOG measures the standing potential between the cornea and retina, which can help diagnose RP [3][6].
• Fundus Autofluorescence (FAF) Imaging: This test uses blue light to take a picture of the retina, which can help diagnose RP [10].

These tests are often used in combination with each other to confirm the diagnosis of RP. A comprehensive eye examination by an ophthalmologist or optometrist is also essential for diagnosing RP.

References:

[1] Visual field testing helps measure your side vision and find any blind spots that may be developing. [2] Optical coherence tomography (OCT) takes special, highly detailed pictures of your retina. [3] Electrooculogram (EOG) is a measurement of standing potential between the cornea and retina. [4] Visual field testing is useful in monitoring the progression of disease and document the status of legal blindness. [5] May 16, 2024 — Electroretinogram. ERG is the most critical diagnostic test for RP because it provides an objective measure of rod and cone function across the retina. [6] Sep 21, 2023 — 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... [8] Nov 13, 2023 — Is ideal for patients with a clinical suspicion /diagnosis of isolated retinitis pigmentosa. Also includes mitochondrial DNA sequencing. [9] Retinitis pigmentosa is the name of a group of eye diseases that are passed down in families. All the diseases involve the eye’s retina. The eye doctor may perform one or more of the following tests to make a diagnosis: Eye chart test; Ophthalmoscopy; Refraction test; Retinal exam; Electroretinography; Visual field measurement; [10] Fundus autofluorescence (FAF) imaging. In this test, the eye doctor uses blue light to take a picture of the retina.

Differential Diagnosis of Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a complex group of inherited disorders, and its diagnosis can be challenging due to the presence of similar symptoms in other conditions. The differential diagnosis of RP includes various retinal degenerations and diseases that can mimic or coexist with RP.

List of Differential Diagnoses:

• Leber's Congenital Amaurosis (LCA): A rare, inherited condition characterized by severe visual impairment at birth.
• Myotonic Dystrophy-Associated Retinopathy: A condition associated with myotonic dystrophy, a genetic disorder that affects muscle tone and can cause retinal degeneration.
• Syphilis: A bacterial infection that can cause retinal damage and symptoms similar to RP.
• Congenital Rubella: A viral infection that can cause birth defects, including visual impairment and retinal degeneration.
• Chloroquine-Induced Retinopathy: A condition caused by long-term use of chloroquine, an antimalarial medication.
• Other Retinal Degenerations: Various conditions, such as cone-rod dystrophy, macular degeneration, and Stargardt disease, can also be considered in the differential diagnosis of RP.

Key Points to Consider:

• The presence of initial symptoms such as photopsia (sensation of lights flashing), abnormal central vision, abnormal color vision, or marked asymmetry in ocular involvement may indicate a condition other than RP.
• A thorough ophthalmological examination and diagnostic tests, including electroretinography (ERG) and optical coherence tomography (OCT), are essential to establish the diagnosis of RP.

References:

• Boyd K, Vemulakonda GA, Turbert D. Retinitis Pigmentosa. American Academy of Ophthalmology.
• Nakahara M. Concentric retinitis pigmentosa: a rare and atypical form of RP. [5]
• International Society for Clinical Electrophysiology of Vision (ISCEV) guidelines for the diagnosis of RP.

Note: The information provided is based on search results 1, 2, 10, 11, 12, 13, and 14 within the context.