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Bietti crystalline corneoretinal dystrophy
ICD-10 Codes
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Description
Bietti crystalline corneoretinal dystrophy (BCD) is a rare inherited retinal disease characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina [3]. It is an autosomal recessive disorder, meaning that it is inherited from both parents and affects both males and females equally [6].
The disease is caused by mutations in the CYP4V2 gene, which results in blindness in the affected individuals [4]. BCD is a progressive condition, meaning that it worsens over time. The symptoms of BCD include night blindness, visual field loss, and eventually, complete blindness [1].
In terms of its description, BCD is characterized by numerous tiny glistening yellow-white crystals in the retina [6]. These crystals can be seen on imaging studies such as optical coherence tomography (OCT) and fundus photography. The disease also affects the cornea, leading to thinning and vision loss.
The symptoms of BCD typically begin in childhood or adolescence, but can also occur later in life [7]. The disease is rare, with only a few reported cases worldwide. However, it is an important condition to recognize, as early diagnosis and treatment can help slow the progression of the disease.
In summary, Bietti crystalline corneoretinal dystrophy (BCD) is a rare inherited retinal disease characterized by yellow-white crystals in the retina, caused by mutations in the CYP4V2 gene. It is a progressive condition that affects both males and females equally, leading to night blindness, visual field loss, and eventually, complete blindness.
References: [1] Mar 12, 2019 — Bietti's crystalline dystrophy (BCD) is an inherited eye disease that can lead to night blindness and other problems seeing. [3] by J Wang · 2024 · Cited by 3 — Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2, which results in blindness in the ... [4] by J Wang · 2024 · Cited by 3 — Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2, which results in blindness in the ... [6] Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals. [7] Disease Overview. Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third ...
Additional Characteristics
- Bietti crystalline corneoretinal dystrophy
- or complex lipid deposits in the retina
- numerous tiny glistening yellow-white crystals in the retina
Signs and Symptoms
Progressive Vision Loss
Bietti crystalline corneoretinal dystrophy (BCD) is characterized by a progressive reduction in visual acuity, nyctalopia (difficulty seeing in dim light), and visual field loss [1]. Patients may experience a gradual decline in their ability to see objects clearly, especially at night or in low-light environments [2].
Visual Field Defects
As the disease progresses, patients may develop visual field defects, including paracentral scotomata (blind spots) and peripheral vision loss [3]. This can lead to difficulties with daily activities that require good peripheral vision, such as driving or navigating through crowded spaces.
Color Vision Impairment
In some cases, BCD may also affect color vision, making it difficult for patients to distinguish between certain colors [1].
Stages of Progression
Researchers suggest that Bietti crystalline corneoretinal dystrophy can be staged based on the severity of symptoms [4]. Patients can experience a gradual decline in their visual abilities over several decades, with some individuals progressing to legal blindness by the fifth or sixth decade of life.
Genetic Basis
The disorder is inherited and caused by mutations in the CYP4V2 gene [5].
References:
[1] Apr 25, 2024 — Patients experience a progressive reduction in visual acuity, nyctalopia, and visual field loss. Occasionally, color vision may also be impaired ...
[2] Nov 1, 2012 — They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose ...
[3] Jun 3, 2024 — Genes Involved (OMIM No.) CYP4V2 (#210370). Symptoms, Progressive vision loss, nyctalopia, decreased visual acuity, visual field defects, ...
[4] by AO Saatci · 2014 · Cited by 16 — Deterioration of vision can become so severe that the patient may even end up in legal blindness by the fifth or sixth decade of life. Patients can be staged ...
[5] by J Wang · 2024 · Cited by 3 — Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2, which results in blindness in the ...
Additional Symptoms
- progressive reduction in visual acuity
- nyctalopia (difficulty seeing in dim light)
- visual field loss
- blind spots (paracentral scotomata)
- peripheral vision loss
- color vision impairment
- blindness
Diagnostic Tests
Diagnosing Bietti Crystalline Corneoretinal Dystrophy (BCD)
Bietti crystalline corneoretinal dystrophy (BCD) is a rare genetic disorder characterized by the presence of corneal and retinal crystals. Diagnosing BCD can be challenging, but several diagnostic tests are available to confirm the condition.
Clinical Evaluation
A thorough clinical evaluation is essential for diagnosing BCD. This includes an ophthalmic examination to detect small glistening yellow-white crystalline deposits in the retina (1). The presence of these crystals, along with other clinical findings such as chorioretinal atrophy, can help confirm the diagnosis (6).
Genetic Testing
Genetic testing is a crucial diagnostic tool for BCD. Exome-based NextGen sequencing with CNV analysis is considered an effective approach to detect genetic mutations associated with the condition (7). This test can also identify other genetic variants that may be relevant to the patient's condition.
Imaging Studies
Imaging studies, such as ultra-wide-field color fundus photographs (CFPs), can help diagnose BCD and classify its clinical stage. Deep learning algorithms can analyze these images to detect retinal crystals and other characteristic features of the disease (3).
Other Diagnostic Tests
Other diagnostic tests, such as slit-lamp biomicroscopy or specular microscopy, can also be used to detect corneal crystal deposits in patients with BCD (5). Near-infrared imaging (NIR) can be a useful tool to diagnose BCD by detecting crystalline deposits in the early stages of the disease (9).
References
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- AO Saatci · 2023 · Cited by 7 — These corneal crystal deposits can be detected by slit-lamp biomicroscopy or specular microscopy in one-third to one-half of patients with BCD ...
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- Apr 25, 2024 — Diagnosis of BCD is based on ophthalmic evaluation of numerous small glistening yellow-white retinal crystalline deposits in the retinal with or ...
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- by H Zhang · 2024 — This study aims to diagnose BCD and classify the clinical stage based on ultra-wide-field (UWF) color fundus photographs (CFPs) via deep learning (DL).
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- by H Zhang · 2024 — This study aims to diagnose BCD and classify the clinical stage based on ultra-wide-field (UWF) color fundus photographs (CFPs) via deep ...
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- by AO Saatci · 2023 · Cited by 7 — These corneal crystal deposits can be detected by slit-lamp biomicroscopy or specular microscopy in one-third to one-half of patients with BCD ...
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- Jun 3, 2024 — Diagnosis is based on clinical findings, including the presence of retinal crystals and chorioretinal atrophy, and is confirmed by genetic ...
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- Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based ...
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- Nov 1, 2012 — Genetic Testing Information. Genetic Testing Registry: Bietti crystalline corneoretinal dystrophy From the National Institutes of Health ...
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- by CY Huang · 2021 · Cited by 7 — Therefore, NIR imaging can be a useful tool to diagnose BCD as it is able to detect not only crystalline deposits in the early stages of disease ...
Additional Diagnostic Tests
- Thorough clinical evaluation
- Genetic testing (exome-based NextGen sequencing with CNV analysis)
- Imaging studies (ultra-wide-field color fundus photographs, deep learning algorithms)
- Slit-lamp biomicroscopy or specular microscopy
- Near-infrared imaging (NIR)
Treatment
Current Treatment Options for Bietti Crystalline Corneoretinal Dystrophy (BCD)
Bietti crystalline corneoretinal dystrophy (BCD) is a rare autosomal recessive disorder characterized by yellow-white crystalline deposits in the retina and, occasionally, in the anterior segment of the eye. While there is currently no specific treatment for BCD, early diagnosis and referral to low-vision specialists can help with management of the condition.
- Supportive Therapy: Patients with BCD are often treated according to typical retinitis pigmentosa (RP) and given supportive therapy such as vasodilators, vitamins, and traditional Chinese medicine. However, this approach has not been shown to be effective in slowing down the progression of the disease.
- Gene Replacement Therapy: Recent studies have explored the use of gene replacement therapy for BCD. A proof-of-concept study published in 2024 demonstrated that adeno-associated virus (AAV)-mediated gene therapy can be used to treat light-induced retinal pigment epithelium (RPE) damage in BCD patients [3]. Another study found early safety and efficacy signals suggesting positive clinical benefits of the gene replacement therapy in BCD patients with CYP4V2 mutations [8].
- AAV-CYP4V2 Gene Therapy: A recent proof-of-concept study showed that AAV-CYP4V2 gene therapy can be used to treat light-induced RPE damage in BCD. This is the first such study, and further research is needed to confirm its efficacy.
- Investigational Therapies: An investigational adeno-associated virus (AAV) vector-based gene therapy, NGGT001, intended to treat Bietti's crystalline corneoretinal dystrophy (BCD), has been reported in the literature [7].
In Summary
While there is currently no specific treatment for BCD, recent studies have explored the use of gene replacement therapy and AAV-CYP4V2 gene therapy as potential treatments. Further research is needed to confirm the efficacy of these approaches.
References:
[1] Wang J, et al. (2024) - RPE65 gene replacement therapy was approved for marketing in 2017 [1]. [3] Li Y, et al. (2024) - AAV-CYP4V2 gene therapy can be used to treat light-induced RPE damage in BCD [3]. [8] Wang J, et al. (2023) - Early safety and efficacy signals suggest positive clinical benefits of the gene replacement therapy in BCD patients with CYP4V2 mutations [8]. [7] May 9, 2024 - NGGT001, an investigational adeno-associated virus (AAV) vector-based gene therapy intended to treat Bietti's crystalline corneoretinal dystrophy (BCD), has been reported in the literature [7].
Recommended Medications
- Amino Acids and Vitamins
- Gene Replacement Therapy
- AAV-CYP4V2 Gene Therapy
💊 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
Differential Diagnosis of Bietti Crystalline Corneoretinal Dystrophy
Bietti crystalline corneoretinal dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy characterized by sparkling crystals in the cornea and retina. When diagnosing BCD, it's essential to consider differential diagnoses that can mimic its clinical presentation.
Primary Differential Diagnoses:
- Primary Hyperoxaluria: This genetic disorder leads to the accumulation of oxalate crystals in various tissues, including the eyes. The symptoms can be similar to those of BCD, making it a crucial differential diagnosis.
- Cystinosis: A rare inherited disease that causes cystine crystals to accumulate in the body's cells and organs, potentially affecting the eyes.
- Sjögren-Larsson Syndrome: A genetic disorder characterized by skin and hair abnormalities, intellectual disability, and other systemic features. Ocular manifestations can include corneal dystrophy.
Other Differential Diagnoses:
- Drug Toxicity: Certain medications can cause crystalline deposits in the eyes, leading to symptoms similar to those of BCD.
- Retinitis Pigmentosa: A group of genetic disorders that affect the retina's ability to respond to light, potentially causing night blindness and other visual disturbances.
Key Diagnostic Features:
To differentiate BCD from these conditions, clinicians should look for specific features:
- Ultra-wide-field color fundus photographs (CFPs): These images can help identify characteristic crystalline deposits in the cornea and retina.
- Multimodal imaging: Techniques like near-infrared (NIR) imaging can aid in differentiating BCD from other chorioretinal dystrophies.
References:
- [1] Saatci, A. O. (2023). Bietti crystalline dystrophy: A rare, genetically determined chorioretinal dystrophy. [Source 2]
- [5] Oishi, A. (2018). Multimodal imaging in the diagnosis of Bietti crystalline dystrophy. [Source 8]
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Additional Differential Diagnoses
Additional Information
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- A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.
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