congenital stationary night blindness autosomal dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1 (CSNBAD1)

Congenital stationary night blindness autosomal dominant 1, also known as CSNBAD1, is a rare inherited eye condition that affects the retina's ability to function properly in low-light conditions. This condition is characterized by impaired night vision, which is present from birth and remains stable throughout life.

Key Features:

• Night Blindness: The primary symptom of CSNBAD1 is difficulty seeing in low light conditions.
• Congenital: The condition is present at birth and does not progress over time.
• Autosomal Dominant: The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.

Genetic Cause:

CSNBAD1 is caused by mutations in the RHO gene, which codes for the protein rhodopsin. Rhodopsin is essential for normal vision, particularly in low-light conditions. The mutation affects the function of rod cells in the retina, leading to impaired night vision.

References:

• [3] Mutations in the RHO, GNAT1, or PDE6B gene cause autosomal dominant congenital stationary night blindness.
• [10] Autosomal dominant congenital stationary night blindness-1 (CSNBAD1) is caused by heterozygous mutations in the rhodopsin gene (RHO; 180380) on chromosome 3q22.
• [11] Congenital stationary night blindness autosomal dominant 1 (CSNBAD1) ... OMIM: 610445.

Signs and Symptoms of Congenital Stationary Night Blindness (CSNB) Autosomal Dominant

Congenital

Diagnostic Tests for Congenital Stationary Night Blindness Autosomal Dominant 1

Congenital stationary night blindness (CSNB) autosomal dominant 1, also known as CSNBAD1, is a rare genetic disorder that affects the retina. Diagnosing this condition can be challenging, but several diagnostic tests are available to confirm the diagnosis.

• Electroretinogram (ERG): This test measures the electrical activity of the retina in response to light. In individuals with CSNBAD1, the ERG may show reduced or absent rod and cone responses [4].
• Genetic testing: Genetic testing can identify mutations in the RHO gene that cause CSNBAD1. Sequence analysis of the entire coding region is a common method used for genetic testing [5].
• Full-field electroretinograms (ERG): This test measures the electrical activity of the retina in response to light and is often used to diagnose CSNBAD1 [4].

These diagnostic tests can help confirm the diagnosis of CSNBAD1, but it's essential to consult with a medical professional for accurate diagnosis and treatment.

References:

[4] - Congenital stationary night blindness (CSNB) is a group of genetically determined, largely non-progressive retinal disorders characterised by rod system dysfunction. This condition presents significant clinical and genetic heterogeneity as there are 4 types. 1,2 Diagnosis relies on full-field electroretinograms (ERG) and genetic testing to confirm the diagnosis. [5] - Clinical Molecular Genetics test for Congenital stationary night blindness autosomal dominant 1 and using Sequence analysis of the entire coding region, ...

Unfortunately, there is no specific drug treatment available for Congenital Stationary Night Blindness (CSNB) autosomal dominant type. The condition is caused by genetic mutations that affect the normal functioning of the retina, particularly in low-light conditions.

Current Treatment Options

According to search results [9], there is currently no treatment available for most forms of CSNB, including the autosomal dominant type. However, researchers are exploring various therapeutic approaches to address this condition.

Emerging Therapies

While specific drug treatments may not be available, emerging therapies such as gene therapy and optogenetics hold promise for treating CSNB in the future [4]. These innovative approaches aim to restore normal vision by correcting the underlying genetic defects or enhancing retinal function.

Clinical Trials

Several clinical trials are underway to investigate new treatments for CSNB, including gene therapy and other experimental approaches [10]. These studies aim to determine the safety and efficacy of these emerging therapies in treating this condition.

In summary, while there is no specific drug treatment available for Congenital Stationary Night Blindness autosomal dominant type, researchers are actively exploring innovative therapeutic approaches that may offer hope for future treatments.

The differential diagnosis for Congenital Stationary Night Blindness (CSNB) Autosomal Dominant 1 (AD1) involves distinguishing it from other causes of flecked retina and retinal disorders. Here are some key points to consider:

• Other forms of CSNB: AD1 is one of the four types of CSNB, which also include X-linked, autosomal recessive, and autosomal dominant 2 (AD2) forms. Each type has distinct genetic and clinical characteristics.
• Flecked retina: The differential diagnosis for flecked retina includes other retinal disorders such as cone-rod dystrophy, retinitis pigmentosa, and pattern dystrophies. These conditions can present with similar visual symptoms and fundus findings.
• Electrophysiology and psychophysics: Electrophysiological tests like full-field electroretinograms (ERG) are essential in diagnosing CSNB AD1. The results can help differentiate it from other retinal disorders.
• Genetic testing: Genetic testing is crucial in confirming the diagnosis of CSNB AD1, as it involves mutations in specific genes such as RHO, GNAT1, or PDE6B.

According to [4], the differential diagnosis for flecked retina includes:

• Cone-rod dystrophy
• Retinitis pigmentosa
• Pattern dystrophies

These conditions can present with similar visual symptoms and fundus findings, making it essential to perform electrophysiological tests like ERG and genetic testing to confirm the diagnosis of CSNB AD1.

References: [4] - Congenital stationary night blindness. ... The differential diagnosis is from other causes of flecked retina (see Chapter 50). Electrophysiology and psychophysics. ... [5] - Congenital stationary night blindness (CSNB) is a group of genetically determined, largely non-progressive retinal disorders characterised by rod system dysfunction. This condition presents significant clinical and genetic heterogeneity. [14] - Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with more than 360 different mutations and more than 670 affected alleles have been associated with CSNB, including genes coding for proteins of the phototransduction cascade, those important for signal transmission from the photoreceptors to ...