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Bothnia retinal dystrophy
ICD-10 Codes
Related ICD-10:
Description
Bothnia Retinal Dystrophy Description
Bothnia retinal dystrophy is an autosomal recessive disorder that manifests in childhood with night blindness, followed by progressive loss of the peripheral visual field and eventual legal blindness in early adulthood. The disease leads to progressive visual impairment due to the destruction of the visual cells in the retina.
Key Characteristics:
- Night Blindness: Onset of night blindness in childhood
- Progressive Visual Loss: Gradual loss of peripheral vision, leading to legal blindness in early adulthood
- Retinal Changes: Yellow-white spots and retinal thinning in the fovea and parafoveal areas
Causes and Prevalence:
Bothnia retinal dystrophy is an inherited disorder with a high prevalence in northern Sweden. The exact cause of the disease is not well understood, but it is believed to be related to genetic mutations.
References:
- [2] Bothnia dystrophy is a unique retinal dystrophy belonging to the rod-cone dystrophies and has a high prevalence in northern Sweden.
- [5] Typical signs of the disease are night blindness and progressive loss of the peripheral visual field, typical pigment deposition in the retina, attenuation of ...
- [9] The disease leads to progressive visual impairment due to the destruction of the visual cells in the retina. It is caused by an inherited ...
Additional Characteristics
- An autosomal recessive disorder that manifests in childhood with night blindness
- Progressive loss of the peripheral visual field and eventual legal blindness in early adulthood
- Destruction of the visual cells in the retina
- Night blindness in childhood
- Gradual loss of peripheral vision, leading to legal blindness in early adulthood
- Yellow-white spots and retinal thinning in the fovea and parafoveal areas
Signs and Symptoms
Bothnia Retinal Dystrophy Signs and Symptoms
Bothnia retinal dystrophy is a rare genetic disorder that affects the retina, leading to progressive vision loss. The signs and symptoms of this condition can vary from person to person, but here are some common ones:
- Night Blindness: One of the earliest symptoms of Bothnia retinal dystrophy is night blindness, which can start in early childhood [1].
- Progressive Vision Loss: As the disease progresses, people with Bothnia retinal dystrophy may experience a gradual loss of peripheral vision and central vision [4].
- Color Vision Deficiency: Some individuals with this condition may have difficulty seeing colors or distinguishing between different shades of color [2].
- Increased Sensitivity to Light: People with Bothnia retinal dystrophy may be sensitive to light, which can cause discomfort or pain in the eyes [6].
- Involuntary Eye Movements: In some cases, individuals with this condition may experience involuntary eye movements (nystagmus) [6].
- Retinal Pigmentation: The retina of people with Bothnia retinal dystrophy may show characteristic pigmentation patterns, which can be observed during a fundus examination [8].
It's essential to note that the severity and progression of these symptoms can vary significantly from person to person. If you suspect that you or someone in your family has Bothnia retinal dystrophy, it's crucial to consult with an eye care professional for proper diagnosis and treatment.
References: [1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [6] - Context result 6 [8] - Context result 8
Additional Symptoms
- Night Blindness
- Progressive Vision Loss
- Color Vision Deficiency
- Increased Sensitivity to Light
- Involuntary Eye Movements
- Retinal Pigmentation
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests available for Bothnia retinal dystrophy.
- A 266 gene panel is mentioned in search result [2], which includes assessment of non-coding variants and is ideal for patients with a clinical suspicion or diagnosis of an isolated or syndromic retinal dystrophy.
- The retinal dystrophy panel, as described in search result [2], is a comprehensive test that can help diagnose Bothnia retinal dystrophy.
- In addition to the gene panel, other tests such as kinetic perimetry and adaptometry are also used to assess the phenotype of Bothnia dystrophy (search result [4]).
- Retinal dystrophies, including Bothnia retinal dystrophy, can be diagnosed through various clinical and genetic tests (search result [5]).
It's worth noting that a strong relationship between objective tests of visual function and patient perceived VRQL was found in search result [9], with WVA being the strongest predictor. However, this information is more related to assessing the impact of the disease on patients rather than diagnostic tests specifically for Bothnia retinal dystrophy.
The following services are also mentioned that might be relevant:
- Novant Health Imaging Museum (search result [11]) offers imaging services such as MRI scans, CT scans, X-rays, ultrasounds & screening mammograms.
- CIS (search result [12]) is a joint venture between Charlotte Radiology and Atrium Health, offering high-quality imaging services with the latest in technology.
However,
Additional Diagnostic Tests
- Gene panel
- Retinal dystrophy panel
- Kinetic perimetry
- Adaptometry
Treatment
Current Treatments for Bothnia Retinal Dystrophy
Bothnia retinal dystrophy, a rare form of inherited retinal dystrophy, presents in early childhood with night blindness and progresses to complete vision loss. While there is no cure for this condition, various treatments aim to slow down or halt its progression.
- Gene Therapy: Research has shown promise in using gene therapy as a potential treatment for Bothnia retinal dystrophy. A study published in Nature Communications demonstrated that sub-retinal injections of AAV8-RLBP1 gene therapy can improve vision in patients with this disease [6][8]. Another study presented at the 24th Euretina Congress found that sub-retinal gene therapy improves function and structure in patients with Bothnia Dystrophy [2].
- Retinal Prostheses: Retinal prostheses, such as the Argus II, can help restore some vision in individuals with severe retinal degeneration. These devices bypass damaged or non-functioning photoreceptors and directly stimulate the retina.
- Low-Vision Aids: Low-vision aids, including magnifying glasses, telescopes, and electronic devices, can assist individuals with Bothnia retinal dystrophy to perform daily tasks and maintain their independence.
Future Directions
While these treatments show promise, more research is needed to fully understand their efficacy and potential side effects. Gene therapy, in particular, holds great promise for treating inherited retinal dystrophies, including Bothnia retinal dystrophy [3][4].
References:
[1] Sep 10, 2024 — A new study at Karolinska Institutet published in Nature Communications shows that gene therapy can improve vision in patients with the disease. [2] Sep 19, 2024 — Sub-retinal gene therapy improves function and structure in patients with Bothnia Dystrophy. Presented at the 24th Euretina Congress ... [3] by A Kvanta · 2024 — Gene therapy holds promise for treatment of inherited retinal dystrophies, a group of rare genetic disorders characterized by severe loss of vision. [4] by H Chawla · 2023 · Cited by 16 — While no cure has been identified, treatments like gene therapy approved for specific conditions, retinal prostheses, and low-vision aids aim to ... [5] Sep 16, 2024 — The study, published in Nature Communications, demonstrates that gene therapy can improve vision in patients with the disease. [6] by N Rangaswamy · 2024 — Purpose : To
Recommended Medications
- Gene Therapy
- Retinal Prostheses
- Low-Vision Aids
💊 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
Bothnia Retinal Dystrophy Differential Diagnosis
Bothnia retinal dystrophy, also known as autosomal recessive retinitis pigmentosa (ARRP), is a rare genetic disorder that affects the retina. To determine
Additional Differential Diagnoses
- Autosomal Recessive Retinal Dystrophy
- retinitis pigmentosa
- Leber congenital amaurosis 1
Additional Information
- relatedICD
- http://example.org/icd10/H18.311
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0050683
- oboInOwl#hasDbXref
- MIM:607475
- IAO_0000115
- A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.
- oboInOwl#hasExactSynonym
- Vasterbotten dystrophy
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_720
- owl#annotatedSource
- t332367
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050683
- rdf-schema#label
- Bothnia retinal dystrophy
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_8501
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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