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bestrophinopathy
ICD-10 Codes
Related ICD-10:
Description
Bestrophinopathy: A Rare Retinal Dystrophy
Bestrophinopathy, also known as Bestrophinopathies, is a rare and heterogeneous group of phenotypes of degenerative eye diseases caused by mutations in the BEST1 gene. This genetic disorder leads to retinal degeneration, which can result in central vision loss.
Characteristics:
- Retinal Degeneration: The primary characteristic of bestrophinopathy is the progressive degeneration of the retina, leading to visual impairment.
- Central Vision Loss: Bestrophinopathy typically affects the central part of the retina, resulting in loss of central vision.
- Rare and Inherited: This condition is rare and inherited, meaning it can be passed down from parents to offspring.
Types:
- Autosomal Recessive Bestrophinopathy (ARB)
Additional Characteristics
- Bestrophinopathy, also known as Bestrophinopathies
- a rare and heterogeneous group of phenotypes of degenerative eye diseases caused by mutations in the BEST1 gene
- retinal degeneration leading to central vision loss
- characterized by retinal degeneration and central vision loss
- rare and inherited, meaning it can be passed down from parents to offspring
- includes Autosomal Recessive Bestrophinopathy (ARB)
Signs and Symptoms
Based on the search results, it appears that bestrophinopathy is a rare genetic disorder affecting the retina.
Visual Loss: The most common presenting symptom of bestrophinopathy is reduced central vision, ranging from 20/200 to 20/25 (10, 11). This visual loss can be mild to highly severe and may progress over time.
- Central Visual Loss: Individuals with bestrophinopathy typically experience central visual loss, which affects their ability to see objects clearly in the center of their visual field (10).
- Hyperopia: Some individuals may also experience hyperopia (farsightedness) as a symptom of bestrophinopathy (11).
Other Symptoms: In some cases, bestrophinopathy can lead to more severe symptoms, including:
- Acute Angle-Closure Glaucoma: A minority of patients with bestrophinopathy may experience acute angle-closure glaucoma, which is a medical emergency that requires immediate attention (14, 15).
- Retinal Degeneration: Bestrophinopathies are typically characterized by retinal degeneration, which can lead to progressive vision loss over time (12, 13).
It's essential to note that the symptoms of bestrophinopathy can vary in severity and may progress differently from person to person. If you or someone you know is experiencing any of these symptoms, it's crucial to consult with a medical professional for proper diagnosis and treatment.
References: (10) [Context result 10] (11) [Context result 11] (12) [Context result 12] (13) [Context result 13] (14) [Context result 14] (15) [Context result 15]
Additional Symptoms
- Reduced central vision
- Central visual loss
- Hyperopia
- Acute Angle-Closure Glaucoma
- Retinal degeneration
Diagnostic Tests
Diagnostic Tests for Bestrophinopathy
Bestrophinopathy, a group of degenerative eye diseases caused by mutations in the BEST genes, can be diagnosed using various tests. Here are some of the diagnostic tests used to confirm the diagnosis:
- Electro-oculogram (EOG): The EOG is a diagnostic test that reflects the function of the retinal pigment epithelium (RPE). It is the most diagnostic test for evaluating vitelliform macular dystrophy, which is one of the bestrophinopathies [7][10].
- Visual field testing: Visual field testing allows practitioners to assess what the patient sees and can be an important diagnostic test for certain eye conditions, such as glaucoma. However, it may not be specific enough to diagnose bestrophinopathy on its own [11].
- Genetic testing: Genetic testing is used to identify changes in the DNA sequence of the BEST genes. This is generally considered the most reliable method for confirming a diagnosis of bestrophinopathy [11][13].
- Electroretinogram (ERG): The ERG measures the electrical activity of the retina and can be used to diagnose various eye conditions, including bestrophinopathy [5].
- Fundus examination: A dilated fundus examination is essential for diagnosing bestrophinopathy. It allows practitioners to examine the back of the eye and look for characteristic changes associated with this condition [6][15].
Additional Tests
While not specific to bestrophinopathy, other tests may be used in conjunction with these diagnostic tests to confirm a diagnosis or rule out other conditions. These include:
- Fluorescein angiography (FA): FA is a test that uses a fluorescent dye to visualize the blood vessels in the retina [6].
- Optical coherence tomography (OCT): OCT is a non-invasive imaging test that can be used to examine the structure of the retina and detect changes associated with bestrophinopathy [14].
References
[5] - 5. Diagnosis of ARB relies on ophthalmologic examination, familial history and visual electrophysiology revealing an abnormal full-field ERG (reduced amplitudes ...
[6] - by CJF Boon · 2013 · Cited by 138 — All patients underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, and fluorescein angiography (FA).
[7] - Nov 30, 2023 — Electro-oculogram. The EOG, which reflects RPE function, is the most diagnostic test for evaluating vitelliform macular dystrophy, ...
[10] - ... has been observed in 8% of Best disease cases, 31 highlighting the need for genetic testing to correctly distinguish and diagnose a bestrophinopathy.
[11] - Visual field testing allows practitioners to get a real gauge into what the patient sees and is often an important diagnostic test for certain eye conditions, such as glaucoma. Genetic testing Diagnosis of a bestrophinopathy is generally confirmed using genetic testing. These tests are used to identify any changes in the DNA sequence of the ...
[13] - Diagnostic testing must be carried out within a laboratory environment working to standards compliant with the ISO 15189. ... As most of the patients with a bestrophinopathy suffer from considerable loss-of-vision either during their teenage years or at the latest during their active adult life, professions requiring perfect vision are ...
[14] - Molecular Diagnosis. Molecular genetic testing was as part of routine National Health Service care using single-gene Sanger sequencing or targeted capture next-generation sequencing (National Genetics Reference Laboratory, Manchester Centre for Genomic Medicine, Manchester, United Kingdom, and Molecular Vision Laboratory, https://www ...
[15] - Representative illustrations of Bestrophinopathy fundus appearance. (a) Best disease, with the egg yolk-like vitelliform lesion observed at the macula. ... is the defining diagnostic test for ...
Additional Diagnostic Tests
- Genetic testing
- Electroretinogram (ERG)
- Optical coherence tomography (OCT)
- Fundus examination
- Visual field testing
- Fluorescein angiography (FA)
- Electro-oculogram (EOG)
Treatment
Current Status of Drug Treatment for Bestrophinopathy
Bestrophinopathy, a group of inherited eye diseases caused by mutations in the BEST genes, currently lacks effective drug treatments. However, research is ongoing to explore potential therapeutic options.
- Proteasome Inhibitors: Studies have shown that proteasome inhibitors, such as 4-phenylbutyrate and bortezomib, can rescue the location of Best1 to the basolateral plasma membrane in patient-derived retinal pigment epithelial (RPE) cells [2]. This suggests a potential therapeutic approach for bestrophinopathies.
- Gene Therapy: Gene therapy may offer a possible treatment for autosomal recessive bestrophinopathy (ARB) in the future. Researchers are investigating ways to restore Best1 function in patient-derived RPE cells using gene therapy approaches [13].
- Ravicti: A study is currently underway to investigate whether Ravicti, an approved drug for an unrelated condition, can improve the function of faulty proteins, including bestrophin [7]. This may provide a potential therapeutic treatment for bestrophinopathies.
- Other Therapeutic Options: Researchers are also exploring other therapeutic options, such as anti-vascular endothelial growth factor (VEGF) therapy and direct laser treatment, to manage secondary choroidal neovascularization (CNVM) in patients with bestrophinopathy [6].
Challenges and Limitations
While these studies offer promising leads for drug treatment of bestrophinopathy, there are still significant challenges and limitations to overcome. Currently, no concrete therapies or treatments exist for patients suffering from any bestrophinopathy [8]. Further research is needed to develop effective therapeutic options for this group of inherited eye diseases.
References:
[2] - This feature provides a long therapeutic window for novel treatment options, and makes BEST1 a compelling target for gene- and cell-based therapies. Best vitelliform macular dystrophy. BVMD, also known as Best disease, inherited in an AD fashion, is the most common bestrophinopathy.
[7] - Ravicti is an approved drug for an unrelated condition but is also known to improve the function of faulty proteins, including bestrophin. This may provide a potential therapeutic treatment for bestrophinopathies.
[13] - The restoration of bestrophin 1 function in patient-derived RPE confirms the US Food and Drug Administration-approved drug 4PBA as a promising therapeutic treatment for bestrophinopathies.
Note: The information provided is based on the search results within the context.
Recommended Medications
- Gene Therapy
- Anti-vascular endothelial growth factor (VEGF) therapy
- Ravicti
- Direct laser treatment
- proteasome inhibitor
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
A differential diagnosis for bestrophinopathy involves ruling out other conditions that may present similar symptoms. According to various studies [13][14][15], a differential diagnosis can be made based on marked autofluorescence changes in combination with an absent light rise on the electro-oculogram (EOG). This is often seen in autosomal-recessive bestrophinopathy, which results from a homozygous or compound heterozygous BEST1 mutation [12].
Bestrophinopathies can be diagnosed clinically based on characteristic fundal and electrophysical features [14]. However, given the phenotypic variability of the condition, it is essential to consider other conditions that may present similar symptoms. These include:
- Other inherited retinal degenerations
- Age-related macular degeneration
- Retinitis pigmentosa
- Stargardt disease
A comprehensive evaluation by an ophthalmologist or a geneticist is necessary to establish a definitive diagnosis of bestrophinopathy and rule out other potential causes.
Additional Differential Diagnoses
- Other inherited retinal degenerations
- Stargardt disease
- retinitis pigmentosa
- macular degeneration
- basal laminar drusen
- patterned macular dystrophy 3
Additional Information
- relatedICD
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- autosomal recessive bestrophinopathy
- IAO_0000115
- A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
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- OMIM mapping confirmed by DO. [SN].
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- DOID:0050662
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