vitreoretinal dystrophy

Vitreoretinal dystrophy refers to a group of rare genetic eye conditions that affect the retina and the vitreous fluid at the back of the eye [4]. These inherited retinal diseases cause damage to the retina, leading to progressive and severe loss of vision [8].

The symptoms of vitreoretinal dystrophies can vary depending on the specific condition, but common presentations include dimness of vision, color blindness, night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions [2]. In some cases, people may experience floaters or see spots or flashes of light due to the formation of tiny cysts between the layers of the retina [6].

Vitreoretinal dystrophies can be inherited in an autosomal dominant or recessive pattern, and they are characterized by the splitting of the retina into two layers, leading to the formation of these cysts [10]. The vitreous appears optically empty apart from the presence of these cysts.

Examples of specific types of vitreoretinal dystrophies include Wagner's syndrome, which is an autosomal dominant condition that affects the vitreous and retinal abnormalities without systemic abnormalities [10], and GFS (Gelsolin-Related Vitreoretinal Degeneration), a rare inherited vitreoretinal dystrophy characterized by fibrillar vitreous degeneration and retinal snowflakes [13].

It's worth noting that the prevalence of RPE65 mutation-associated retinal dystrophy is thought to be approximately 1/200,000 [14].

Vitreoretinal dystrophies are a group of rare genetic eye conditions that affect the retina and the vitreous, a clear gel-like substance in the eyeball. The signs and symptoms of vitreoretinal dystrophy can vary depending on the specific condition, but here are some common ones:

• Visual disturbances: Difficulty seeing fine details, color blindness, night blindness, and peripheral vision abnormalities [5].
• Loss of visual acuity: Difficulty making out fine detail and performing precision tasks [6].
• Reduced field of vision: Tunnel vision or the appearance of a blind spot in your side (peripheral) vision that can spread to lessen your overall vision [6].
• Night blindness: The inability to properly adapt your sight in dimly lit places, which can greatly affect your normal daily activities [10].
• Floaters and flashes: Mobile blurry shadows or streaks of light that obscure the vision, often seen at the side of the vision [9].

It's worth noting that each vitreoretinal dystrophy has different signs and symptoms, and they can progress at different rates. Some people may experience a slow decline in vision, while others may have more rapid progression.

In some cases, vitreoretinal diseases can also cause other complications such as:

• Macular degeneration: A disease in the macula that can cause temporary or permanent loss of central vision [13].
• Retinal detachment: A condition where the retina separates from the back of the eye, which can lead to blindness if left untreated [13].

It's essential to seek medical attention promptly if you experience any unusual visual symptoms or changes in your vision. A retinal specialist can evaluate and diagnose vitreoretinal diseases, and provide guidance on treatment options.

References: [5] - Common presentations include dimness of vision, color blindness, night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. [6] - Symptoms · Loss of visual acuity: difficulty in making out fine detail and performing precision tasks. · Reduced field of vision: tunnel vision or the appearance ... [9] - Symptoms · Floaters (mobile blurry shadows that obscure the vision) · Flashes (streaks of light, usually at the side of the vision). [10] - Retinal dystrophy’s speed of evolution and symptoms depend on the person and the type of retinal dystrophy disease they have. But some common signs and symptoms of retinal dystrophies exist. [13] - Examples of these vitreoretinal diseases are: Macular degeneration; Macular hole; Epiretinal membrane or macular packer; Diabetic retinopathy and maculopathy; Retinal detachment .

Vitreoretinal dystrophy is a group of degenerative disorders that affect the vitreous and retina in the eye. Diagnostic tests for vitreoretinal dystrophy are crucial for early detection, diagnosis, and management of this condition.

Common diagnostic tests for vitreoretinal dystrophy:

• Wide-field fluorescein angiography: This photographic test uses an intravenous dye to provide detailed information about the structure and function of retinal blood vessels. It is useful in detecting abnormalities in the retina and choroid. [7]
• Ocular ultrasound: High-frequency sound waves are used to obtain images of the retina, which can help diagnose conditions such as retinal detachments and macular degeneration. [11]
• Electroretinography (ERG): This test measures the retina's response to light, checking the function of different retinal cells. It is useful in detecting abnormalities in the retina's electrical activity. [9]
• Genetic diagnostic testing: This includes single gene vs gene panel testing, exome sequencing, and genome sequencing. A retinal dystrophy panel can provide an efficient first step for genetic testing. [12]

Other diagnostic tests:

• Vitreous examination: The vitreous appears optically empty apart from a few scattered cells in Wagner's syndrome, an autosomal dominant vitreoretinal dystrophy. [10]
• B-scan ultrasonography: This test can help with preoperative planning and prognostication in vitreoretinal surgical conditions. [15]

Important considerations:

• Genetic testing should include genes known to be associated with retinal dystrophies, even if the patient does not have syndromic features. [12]
• The sensitivity of genetic diagnostic testing may vary depending on the specific test used and the individual's condition. [14]

Current Drug Treatments for Vitreoretinal Dystrophy

Vitreoretinal dystrophy, also known as retinitis pigmentosa (RP), is a group of rare genetic disorders that affect the retina and can lead to severe vision loss. While there is no cure for RP, various drug treatments have been developed to manage its symptoms and slow down disease progression.

• Ocriplasmin: This is an FDA-approved drug treatment administered as a single injection into the eye. It works by dissolving adhesions in the vitreous gel, which can help reduce traction on the retina and improve vision.
• Iluvien: Another FDA-approved sustained-release intravitreal implant, Iluvien has been shown to be effective in treating diabetic macular edema (DME) and macular edema secondary to retinal vein occlusion (RVO). While not specifically approved for RP, it may still provide some benefits.
• Gene therapy: Gene therapy holds promise for the treatment of inherited retinal dystrophies, including RP. Luxturna, a gene therapy developed by Spark Therapeutics, has been approved by the FDA for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.

Other Experimental Treatments

• Diltiazem: This experimental therapy has shown promise in reducing degeneration of the retina in preclinical studies.
• Fenretinide and emixustat: These investigational drugs are being explored for their potential to treat dry age-related macular degeneration (AMD), although they have not been shown to reduce geographic atrophy or improve vision in human trials.

Goals of Treatment

The main goals of treatment for vitreoretinal dystrophy are to stop or slow disease progression and preserve, improve, or restore vision. In many cases, damage that has already happened cannot be reversed, making early detection important. Your eye doctor will work with you to decide on the best treatment plan.

References:

• [1] Ocriplasmin is a drug treatment administered as a single injection into the eye (Search result 7).
• [2] Iluvien has been shown to be effective in treating DME and macular edema secondary to RVO (Search result 8).
• [3] Gene therapy holds promise for the treatment of inherited retinal dystrophies, including RP (Search results 11, 12, 13).
• [4] Luxturna is a gene therapy approved by the FDA for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy (Search result 11).

Differential Diagnosis of Vitreoretinal Dystrophy

Vitreoretinal dystrophy, a group of degenerative disorders affecting the retina and vitreous, requires accurate differential diagnosis to rule out other genetic or acquired disorders. Misdiagnosis can have significant implications for genetic and prognostic counseling.

Common Differential Diagnoses:

• Hereditary Maculopathies: These include conditions such as pattern dystrophies, which are characterized by various patterns of pigment deposition within the macula.
• Retinoblastoma and Other Eye Cancers: Although rare, retinoblastoma is a type of eye cancer that can be diagnosed in infancy or early childhood.
• Myotonic Dystrophy-Associated Retinopathy: This condition is associated with myotonic dystrophy, a genetic disorder affecting muscle tone.
• Sclerochoroidal Calcification: A condition caused by calcium deposition in the sclera, which can be mistaken for an ocular tumor.

Other Differential Diagnoses:

• Stickler Syndrome and Wagner Syndrome: These are inherited conditions that affect the peripheral retina and vitreous.
• Myotonic Dystrophy-Associated Retinopathy: This condition is associated with myotonic dystrophy, a genetic disorder affecting muscle tone.

Risk Factors:

• Aging: The risk of developing vitreoretinal dystrophy increases with age.
• Smoking: Smoking has been linked to an increased risk of various eye diseases, including vitreoretinal dystrophy.
• Obesity: Being obese can increase the risk of developing eye diseases, including vitreoretinal dystrophy.
• Diabetes and Other Diseases: Certain diseases, such as diabetes, can increase the risk of developing eye problems, including vitreoretinal dystrophy.
• Eye Trauma: A history of eye trauma can increase the risk of developing eye problems, including vitreoretinal dystrophy.
• Family History: A family history of retinal diseases can increase an individual's risk of developing vitreoretinal dystrophy.

References:

1. [3] Genetic variations in your DNA for specific genes can cause IRD. DNA is the code passed along from your parents' genes. These gene changes cause ...
2. [6] The retinal dystrophies comprise a spectrum of degenerative disorders with autosomal recessive, autosomal dominant, X-linked, and mitochondrial inheritance ...
3. [10] Differential diagnosis. The most common vitreoretinal degeneration is type I (COL2A1) Stickler syndrome with the type I or membranous vitreous appearance. ... Snowflake vitreoretinal dystrophy exhibits a fibrillar vitreous destruction, but it is less likely, considering the lack of systemic symptoms, ...
4. [13] This all-encompassing textbook is designed to enhance diagnosis and treatment of vitreoretinal diseases in uniquely arranged chapters to determine the differential diagnosis and best treatment.
5. [14] Autosomal recessively inherited vitreoretinal dystrophy. ... Differential diagnosis. Until the gene causing Snowflake vitreoretinal degeneration is identified, diagnosis will continued to be difficult because of overlap with other types of vitreoretinal degeneration.