congenital stationary night blindness 1D

Congenital Stationary Night Blindness 1D (CSNB1D)

Congenital stationary night blindness 1D is a rare, autosomal recessive form of congenital stationary night blindness. This condition is characterized by impaired night vision, with individuals having difficulty seeing and distinguishing objects in low light conditions.

Key Features:

• Autosomal Recessive Inheritance: CSNB1D is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.
• Riggs Type Electroretinogram: Individuals with CSNB1D have a Riggs type electroretinogram, which is characterized by proportionally reduced a- and b-waves in response to a scotopic bright flash.
• Normal Visual Acuity: Patients with CSNB1D typically have normal visual acuity and no symptoms of myopia or nystagmus.

Causes:

CSNB1D is caused by homozygous mutations in the SLC24A1 gene, which disrupts the transmission of visual signals between rod cells in the retina. This leads to impaired night vision and reduced sensitivity to light.

References:

• [1] Riazuddin et al., 2010 - Studied 5 affected individuals from 4 sibships of a large consanguineous Pakistani pedigree who reported night blindness with normal visual acuity.
• [2-4] Various studies on the Riggs type and Schubert-Bornschein (S–B) types of congenital stationary night blindness, which are less prevalent and have distinct electroretinographic findings.

Note: The information provided is based on the search results and may not be an exhaustive or definitive description of CSNB1D.

Signs and Symptoms of Congenital Stationary Night Blindness 1D (CSNB1D)

Congenital stationary night blindness 1D (CSNB1D) is a rare genetic disorder that affects the retina, leading to impaired night vision. The primary symptom of CSNB1D is difficulty seeing in low light conditions, which is present from birth and remains stable over time.

• Night Blindness: People with CSNB1D typically experience significant difficulty seeing objects or distinguishing shapes in low light environments, such as at night or in dimly lit rooms.
• Reduced Visual Acuity: In addition to night blindness, individuals with CSNB1D may also have reduced visual acuity, which can affect their ability to see details and read text.
• Myopia and Nystagmus: Some people with CSNB1D may experience myopia (nearsightedness) and nystagmus (involuntary eye movements), although these symptoms are not universal.

It's essential to note that daytime vision is typically normal or near-normal in individuals with CSNB1D. However, mild color vision defects can sometimes be detected.

References:

• [2] Autosomal recessive congenital stationary night blindness Description
• [12] CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves).
• [14] Difficulty seeing at night is the primary symptom of congenital stationary night blindness.
• [15] Congenital stationary night blindness disorders are primarily rod dystrophies presenting early with symptoms of nightblindness and relative sparing of central vision.

Diagnostic Tests for Congenital Stationary Night Blindness (CSNB) 1D

Congenital stationary night blindness (CSNB) 1D is a rare, inherited eye condition that primarily affects people assigned male at birth. Diagnosing CSNB 1D can be challenging due to its non-progressive nature and the lack of symptoms in some cases.

Electroretinogram (ERG)

A full-field electroretinogram (ERG) is a diagnostic tool used to assess the function of the retina. In patients with CSNB 1D, ERG shows a Riggs type of response, characterized by proportionally reduced a- and b-waves [12]. This test can help confirm the diagnosis of CSNB 1D.

Genetic Testing

Genetic testing is another essential diagnostic tool for CSNB 1D. Deletion/duplication analysis (10) and NGS panel with CNV analysis (7) are molecular genetics tests that can identify the genetic mutations responsible for CSNB 1D. These tests can help confirm the diagnosis and provide information on the genetic basis of the condition.

Other Diagnostic Tests

While not specific to CSNB 1D, other diagnostic tests may be used in conjunction with ERG and genetic testing to rule out other conditions that may present similarly. These include:

• Visual acuity testing
• Color vision testing
• Fundus examination

It is essential to note that a diagnosis of CSNB 1D should only be made by an experienced eye care professional, such as an ophthalmologist or optometrist.

References

[7] Molecular Vision Laboratory. (n.d.). Clinical Genetic Test offered by Molecular Vision Laboratory for conditions (19): Cone-rod synaptic disorder, congenital nonprogressive; Congenital stationary night blindness 1D. [12] Riazuddin et al. (2010). Summary of CSNB1D.

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Current Status of Drug Treatment for Congenital Stationary Night Blindness (CSNB) Type 1D

Unfortunately, there is no known treatment or cure for CSNB Type 1D, a rare and inherited form of congenital stationary night blindness. However, research into gene therapy and other treatments has increased in recent years.

• Gene Therapy: While not specifically mentioned as a treatment for CSNB Type 1D, advances in gene therapy have improved the diagnosis and management of inherited retinal diseases (IRDs), including CSNB.
• No Specific Treatment Mentioned: None of the search results mention any specific drug or treatment for CSNB Type 1D.

Current Research and Developments

While there is no established treatment for CSNB Type 1D, research into related conditions and treatments may provide insights into potential future developments.

• Gene Therapy Advances: The development of sequencing technologies and gene therapy has increased the ease and urgency of diagnosing IRDs, including CSNB (Source: [4])
• Treatment Improvements in Related Conditions: Research into Pde6βrd10 and RhoP23H/WT retinitis pigmentosa mice has shown improvements in cone photoreceptor function and slowed degeneration with treatment (Source: [14])

Conclusion

While there is currently no established drug treatment for CSNB Type 1D, research into gene therapy and other treatments may provide future insights into potential therapies. Patients with this condition should consult with their healthcare provider to discuss the latest developments and management options.

References:

[4] Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night vision disturbances. Research into gene therapy has improved diagnosis and management of IRDs, including CSNB. [14] Treatment improves cone photoreceptor function and slows degeneration in Pde6βrd10 and RhoP23H/WT retinitis pigmentosa mice.

Understanding Congenital Stationary Night Blindness 1D (CSNB1D)

Congenital stationary night blindness 1D (CSNB1D) is a rare, autosomal recessive form of congenital stationary night blindness. This condition is characterized by a specific type of electroretinogram (ERG), known as the Riggs type.

Key Features

• Autosomal Recessive Inheritance: CSNB1D is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene to pass it on to their child.
• Riggs Type ERG: The condition is characterized by a specific type of ERG, known as the Riggs type, which shows a proportionally reduced rod response and a normal cone response.

Differential Diagnosis

When diagnosing CSNB1D, it's essential to consider other conditions that may present with similar symptoms. Some of these differential diagnoses include:

• Other forms of congenital stationary night blindness: There are several types of congenital stationary night blindness, including Schubert-Bornschein and Riggs types.
• Retinitis pigmentosa: This is a group of genetic disorders that affect the retina's ability to respond to light.
• Leber congenital amaurosis: This is a rare, inherited form of blindness that affects the retina.

Diagnostic Criteria

To diagnose CSNB1D, doctors typically use a combination of the following:

• Full-field electroretinogram (ERG): This test measures the electrical activity of the retina in response to light.
• Genetic testing: This involves analyzing DNA samples from affected individuals and their family members to identify mutations in the SLC24A1 gene.

References

• [5] Defects in SLC24A1 can cause congenital stationary night blindness 1D (CSNB1D), an autosomal recessive, non-progressive retinal disorder characterised by a Riggs type of electroretinogram.
• [15] Congenital stationary night blindness (CSNB) is a group of genetically determined, largely non-progressive retinal disorders characterised by rod system dysfunction.