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Achromatopsia 2

Disease Details

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Description: Achromatopsia_2 is a form of complete color blindness characterized by the inability to see colors, impaired visual acuity, and light sensitivity.
Type: Achromatopsia 2 (ACHM2) is a type of inherited retinal disorder. The genetic transmission of ACHM2 is autosomal recessive.
Signs And Symptoms: Achromatopsia_2 (ACHM2) is a form of achromatopsia, a hereditary visual disorder characterized by the following signs and symptoms:

- Complete color blindness or significantly reduced color discrimination.
- Photophobia (light sensitivity).
- Nystagmus (involuntary eye movement).
- Reduced visual acuity (sharpness of vision).
- Difficulty seeing in bright light conditions.

Patients often have normal retinal structure but impaired function of cone photoreceptors.
Prognosis: Achromatopsia-2 is a form of complete color blindness associated with mutations in the CNGA3 gene. The prognosis involves lifelong visual challenges such as an inability to perceive color, reduced visual acuity, light sensitivity (photophobia), and nystagmus (uncontrolled eye movements). These symptoms typically appear in infancy or early childhood and persist throughout life. While there's currently no cure, management strategies like tinted lenses and adaptive strategies can help improve quality of life.
Onset: Achromatopsia 2 (ACHM2) typically has its onset at birth or in early infancy. This condition, which involves complete color blindness, is usually apparent from a very young age due to symptoms such as reduced visual acuity, light sensitivity, and nystagmus.
Prevalence: Achromatopsia_2 (ACHM2) is a rare genetic condition characterized by a complete lack of color vision, among other visual impairments. The overall prevalence of achromatopsia, including all subtypes, is estimated to be about 1 in 30,000 to 50,000 people. However, specific prevalence data for the ACHM2 subtype is not well-documented, making it challenging to provide an accurate figure.
Epidemiology: Achromatopsia-2, also referred to as rod monochromacy, is a rare genetic eye disorder characterized by a complete absence of functioning cone cells, which are responsible for color vision. The prevalence is estimated to be approximately 1 in 30,000 to 1 in 50,000 individuals worldwide. It is an autosomal recessive condition, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. The disorder usually presents from birth or early infancy and is associated with other visual impairments such as reduced visual acuity, photophobia (light sensitivity), and nystagmus (involuntary eye movements).
Intractability: Achromatopsia is generally considered intractable with current medical treatments. It is a rare, inherited retinal disorder characterized by partial or total absence of color vision, light sensitivity, and reduced visual acuity. Management typically focuses on symptomatic relief, such as using tinted lenses to reduce light sensitivity, rather than curing the condition. Research is ongoing in areas like gene therapy, but as of now, there is no cure.
Disease Severity: Achromatopsia_2 is a genetic disorder characterized by complete color blindness, nystagmus, photophobia, and reduced visual acuity from birth. It is generally considered to be a severe form of achromatopsia due to the complete loss of color discrimination and significant visual impairment.
Healthcare Professionals: Disease Ontology ID - DOID:0110007
Pathophysiology: Achromatopsia_2, caused specifically by defects in the CNGA3 gene, results in a malfunction of the cone photoreceptors within the retina. This leads to a complete inability to perceive color (total color blindness), and patients often experience additional visual issues such as photophobia (sensitivity to light), nystagmus (involuntary eye movement), and low visual acuity. The CNGA3 gene encodes for a subunit of the cyclic nucleotide-gated channel essential for phototransduction in cone cells, and its mutation disrupts this process.
Carrier Status: Achromatopsia 2 (ACHM2) is an inherited visual disorder caused by mutations in the CNGA3 gene.

Carrier Status: If a person carries one mutated copy of the CNGA3 gene and one normal copy, they are a carrier of Achromatopsia 2. Carriers typically do not exhibit symptoms of the condition but can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit both mutated copies and be affected by Achromatopsia 2.

Nan: This reference doesn’t correlate with common medical terminology in relation to Achromatopsia 2 and might be a typographical error or an unrelated term. If more context is provided, a precise explanation can be given.
Mechanism: Achromatopsia 2 (ACHM2) is a congenital disorder characterized by the absence of color vision, photophobia, nystagmus, and reduced visual acuity. The primary molecular mechanism underlying ACHM2 involves mutations in the CNGA3 gene. This gene encodes the alpha subunit of the cyclic nucleotide-gated (CNG) channel, which is critical for phototransduction in cone photoreceptor cells of the retina.

The CNGA3 mutations lead to dysfunctional CNG channels, impairing the normal hyperpolarization response to light stimuli in cone cells. Consequently, this disrupts the conversion of light signals into neural signals, resulting in the symptoms observed in achromatopsia, such as loss of color vision and sensitivity to light.
Treatment: Achromatopsia 2 (ACHM2) is a genetic disorder characterized by the absence of color vision, light sensitivity, and reduced visual acuity. As of now, there is no cure for ACHM2. Treatment focuses on symptom management, which includes the use of tinted glasses or contact lenses to reduce light sensitivity, low vision aids to improve visual function, and mobility training. Gene therapy is being researched as a potential future treatment but is not yet available.
Compassionate Use Treatment: Achromatopsia type 2 (ACHM2) is a rare genetic disorder affecting vision. Treatment options are generally limited, as there is no cure. However, here are some compassionate use, off-label, or experimental treatments:

1. **Gene Therapy**: Several clinical trials are ongoing to assess the safety and efficacy of gene therapy to correct the genetic mutations causing achromatopsia. These therapies are experimental and may be available through clinical trials or compassionate use programs.

2. **Tinted Contact Lenses and Glasses**: While not a treatment per se, the use of specially tinted lenses can help manage light sensitivity and improve visual comfort. These are considered off-label uses but can provide symptomatic relief.

3. **Assistive Devices**: Utilizing low vision aids such as magnifiers, digital applications, and other assistive technologies can help individuals maximize their remaining vision.

4. **Experimental Drugs**: Research is ongoing into pharmacological treatments that might help improve visual function in achromatopsia patients. Some of these are in the experimental stages and might be accessible through clinical trials.

Consulting with a healthcare provider specializing in genetic eye disorders is essential for exploring eligibility for these treatments.
Lifestyle Recommendations: Achromatopsia 2 is a genetic disorder characterized by the absence of color vision and other visual impairments. For those living with this condition, the following lifestyle recommendations might be helpful:

1. **Protect Eyes from Bright Light**: Individuals with achromatopsia are usually very sensitive to light (photophobia). Wearing wide-brimmed hats and tinted glasses or sunglasses can help reduce light sensitivity and improve comfort.

2. **Use of Assistive Devices**: Utilizing low vision aids such as magnifiers, specialized computer software with screen filters, and electronic devices designed for low vision can help improve daily functioning.

3. **Safe and Accessible Environment**: Ensure that living spaces are well-organized, clutter-free, and have appropriate lighting to reduce glare and enhance contrast, making navigation easier.

4. **Education and Employment Support**: Seek accommodations in educational and workplace settings, such as additional time for tasks, modified print materials, and assistive technologies.

5. **Regular Eye Check-ups**: Regular consultations with an ophthalmologist or optometrist knowledgeable about low vision to monitor eye health and receive personalized advice.

6. **Support Networks**: Engage with support groups or counseling to connect with others who have similar experiences, which can provide emotional support and practical advice.

Leading a lifestyle adapted to these needs can help manage the symptoms associated with achromatopsia 2 and improve overall quality of life.
Medication: Currently, there is no specific medication for treating achromatopsia type 2 (ACHM2). Management primarily focuses on supportive measures such as using tinted lenses or sunglasses to reduce light sensitivity, visual aids to enhance low vision, and regular monitoring by an eye care specialist.
Repurposable Drugs: For achromatopsia_2, currently, there are no widely recognized repurposable drugs specifically for treating this condition. Achromatopsia is a rare genetic disorder characterized by the absence of color vision and other visual impairments. Research is ongoing to find effective treatments, including gene therapy and other innovative approaches. However, for specific and up-to-date information, consulting current medical literature or a healthcare professional is recommended.
Metabolites: Achromatopsia 2 (ACHM2) is associated with mutations in the CNGA3 gene. The specific metabolites involved or altered due to ACHM2 are not well-documented in current metabolic studies. The term "nan" might be an error or a miscommunication; thus, it requires no specific answer. If you need more detailed biochemical pathways or specific research findings, please provide additional context.
Nutraceuticals: For achromatopsia_2 (ACHM2), which is a genetic disorder leading to color blindness and other vision problems, there is currently no established treatment involving nutraceuticals. Nutraceuticals are dietary supplements or food products that claim to provide health benefits, often beyond basic nutrition. While they can support general eye health, they are not known to specifically address the underlying genetic causes or symptoms of achromatopsia_2. Research and treatments for ACHM2 primarily focus on gene therapy and other medical interventions rather than nutraceuticals.
Peptides: Achromatopsia-2 (ACHM2) is a genetic disorder caused by mutations in the CNGA3 gene. It affects the cone cells in the retina, leading to complete color blindness, light sensitivity, and poor visual acuity.

1. **Peptides**: Research is ongoing in the development of therapeutic peptides and gene therapies targeting the underlying genetic mutations. However, there are no specific peptide treatments currently established for ACHM2.

2. **Nanotechnology (nan)**: Nanotechnology-based approaches are being explored to deliver gene therapy more effectively to retinal cells or to create advanced retinal implants. These nanotechnology-based treatments are still largely experimental.

Current treatment primarily focuses on managing symptoms, such as using tinted lenses to reduce light sensitivity and enhancing visual aids for better daily functioning.