autosomal dominant vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder that affects the eyes, specifically the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid).

The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild to severe. The disorder is characterized by:

• Abnormal chorioretinal pigmentation, which is a change in the color of the choroid layer of the retina [1][2]
• Developmental ocular anomalies, such as microcornea (a small cornea), shallow anterior chamber, glaucoma, and cataract [3]
• A circumferential band of peripheral retinal hyperpigmentation with a well-defined posterior demarcation [4][5]

ADVIRC is inherited in an autosomal dominant pattern, meaning that if one parent has the disorder, each child has a 50% chance of inheriting it. The age of onset can vary, but it often occurs in childhood or adolescence.

The disorder is associated with mutations in the BEST1 gene, which codes for a protein called bestrophin-1 [6][7]. Bestrophin-1 plays a crucial role in maintaining the health and function of the retina.

Overall, autosomal dominant vitreoretinochoroidopathy is a rare and complex eye disorder that requires careful diagnosis and management by an ophthalmologist or other eye care specialist.

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic disorder that affects several parts of the eyes, including the vitreous, retina, and choroid. The signs and symptoms of ADVIRC can vary among individuals, even within the same family.

Common Symptoms:

• Microcornea: A condition where the cornea is smaller than normal.
• Shallow anterior chamber: A condition where the space between the cornea and the iris is shallower than normal.
• Glaucoma: Increased pressure in the eye that can damage the optic nerve.
• Cataract: A clouding of the lens in the eye that affects vision.
• Degeneration of the vitreous or choroid: Weakening of the gel-like substance inside the eye (vitreous) or the layer of blood vessels between the retina and sclera (choroid).

Additional Symptoms:

• Night vision disturbances
• Visual field abnormalities
• Retinal vascular incompetence
• Cystoid macular edema
• Presenile cataracts

These symptoms can lead to varying degrees of vision impairment, from mild reduction to complete loss. It's essential to note that the severity and progression of ADVIRC can differ significantly among individuals.

References:

• [3] The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people may experience only minor symptoms.
• [4] Symptoms include microcornea, shallow anterior chamber, glaucoma, cataract, and degeneration of the vitreous or choroid.
• [6] Patients affected with ADVIRC usually experience night vision disturbances and visual field abnormalities during adulthood.
• [7] Most affected family members have diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts.

Based on the provided context, diagnostic tests for autosomal dominant vitreoretinochoroidopathy (ADVIRC) may include:

• Genetic testing: Next-generation sequencing can contribute to the proper clinical diagnosis, especially in case of atypical phenotypic features of ADVIRC [4]. Genetic counseling is also possible [11].
• Ophthalmological examination: A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina [6][9].
• Visual field testing: Goldmann visual field (GVF) results were available on four subjects [13].
• Electroretinography (ERG): Psychophysical testing and full-field electroretinography (ERG) were obtained [13].

It's worth noting that ADVIRC is a rare condition, and diagnostic teams may include genetics specialists [10]. Additionally, the diagnosis of ADVIRC can be challenging due to its high phenotypic variability, which may lead to misdiagnosis, especially in advanced forms [7].

References:

[4] next-generation sequencing can contribute to the proper clinical diagnosis, especially in case of atypical phenotypic features of autosomal dominant vitreoretinochoroidopathy. [6] A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. [9] A characteristic feature of ADVIRC, visible with a special eye exam, is a circular band of excess coloring (hyperpigmentation) in the retina. [10] Diagnostic teams for Autosomal dominant vitreoretinochoroidopathy may include: Genetics . [11] Transmission is autosomal dominant and genetic counseling is possible. [13] Goldmann visual field (GVF) results were available on four subjects.

Current Treatment Options for Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Unfortunately, there are no specific treatments available to cure or halt the progression of ADVIRC. However, close follow-up and prompt management of complications can help alleviate symptoms and prevent further vision impairment.

• Laser photocoagulation: This treatment may be necessary when choroidal neovascularization occurs, which can lead to bleeding in the eye.
• Intravitreal delivery of anti-vascular endothelial growth factor agents: Bevacizumab and ranibizumab are two such agents that may be used to treat choroidal neovascularization.
• Treatment for cystoid macular edema: This condition can cause fluid buildup in the macula, leading to vision impairment. Treatment options include corticosteroids or other anti-inflammatory medications.

Monitoring and Management

Regular follow-up appointments with an eye care professional are crucial to detect and treat potential complications early on. These may include:

• Glaucoma: Increased pressure within the eye can lead to glaucoma, which can cause vision loss if left untreated.
• Retinal neovascularization: The growth of new blood vessels in the retina can lead to bleeding or other complications.
• Detachments: Fluid buildup or retinal tears can cause the retina to detach from the back of the eye.

Future Research Directions

While there are no specific treatments available for ADVIRC, researchers continue to explore potential therapeutic options. For example, a study on bestrophinopathies (a group of diseases that include ADVIRC) has proposed methods for treating these conditions using recombinant proteins [7].

It's essential to note that the management and treatment of ADVIRC are still evolving, and more research is needed to develop effective treatments for this rare condition.

References:

• [10] Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.
• [7] What is Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)? ADVIRC is a dominantly inherited bestrophinopathy which affects the Retinal Pigment Epithelium (RPE) cells of the eye.

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) can be challenging to diagnose due to its rarity and similarity in presentation with other retinal dystrophies. However, several conditions should be considered in the differential diagnosis of ADVIRC.

• Retinitis pigmentosa or rod-cone dystrophy: These conditions are characterized by progressive loss of rod photoreceptors, leading to night blindness and peripheral vision loss [8].
• Cone-rod dystrophy: This condition is similar to retinitis pigmentosa but affects cone photoreceptors first, causing central vision loss [8].
• Late-onset Best disease: Also known as adult foveomacular vitelliform dystrophy, this condition presents with a characteristic "vitelliform" lesion in the macula and can be confused with ADVIRC due to its similar inheritance pattern and peripheral retinal pigmentation [11].
• Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV): This rare condition shares similarities with ADVIRC, including inheritance pattern, peripheral retinal pigmentation, retinal neovascularization, and vitritis [13].

It's essential to consider these conditions in the differential diagnosis of ADVIRC, especially in pediatric patients with severe retinal dystrophy in early childhood [3]. A comprehensive evaluation, including full-field electroretinogram (ERG), electro-oculogram (EOG), and macular thickness measurements, can help differentiate ADVIRC from other retinal dystrophies [12].

References: [3] - This report highlights the high phenotypic variability of autosomal dominant vitreoretinochoroidopathy, which may be misdiagnosed, especially in advanced forms [7]. [8] - by E BOULANGER-SCEMAMA · Cited by 8 — disease. Differential diagnoses that should be consid- ered for ADVIRC are retinitis pigmentosa or rod-cone dystrophy, cone-rod dystrophy, and late-onset ... [11] - The differential diagnosis of Best disease includes adult foveomacular vitelliform dystrophy (within the spectrum of pattern dystrophies), ... Autosomal dominant vitreoretinochoroidopathy (ADVIRC) ADVIRC is a rare peripheral chorioretinal pigmentary disorder . [12] - Diagnosis of ADVIRC is based on low normal to non-recordable amplitudes of cones and rods on full-field electroretinogram (generalized rod and cone dysfunction), an abnormal electro-oculogram (EOG) (the light rise of EOG is decreased giving a reduced Arden ratio), and normal macular thickness on ... [13] - Differential diagnosis. The differential diagnosis can vary based upon the stage of the disease: ... Additionally, a disease known as autosomal dominant vitreoretinochoroidopathy (ADVIRC) demonstrates similar features as ADNIV including inheritance pattern, peripheral retinal pigmentation, retinal neovascularization and vitritis.