Congenital stationary night blindness gene panel

Congenital Stationary Night Blindness (CSNB) Gene Panel

Congenital Stationary Night Blindness (CSNB) Gene Panel is a specialized genetic test that analyzes multiple genes associated with inherited forms of congenital stationary night blindness—a non-progressive retinal disorder characterized by impaired vision in low-light conditions.

Why is this test done?

• Diagnose inherited causes of congenital night blindness.
• Confirm the genetic basis of retinal dysfunction.
• Differentiate CSNB from progressive retinal diseases.
• Guide genetic counseling and family planning.
• Support personalized clinical management and prognosis.

Who should consider this test?

• Individuals with lifelong difficulty seeing in dim light.
• Children with unexplained night blindness or visual impairment.
• Patients with nystagmus, myopia, or reduced visual acuity suggestive of CSNB.
• Individuals with a family history of inherited retinal disorders.

Sample Required

• Peripheral blood (EDTA)

Test Method

• Next-Generation Sequencing (NGS) with bioinformatics analysis.
• Deletion/duplication analysis may be included where clinically indicated.

Preparation

• No fasting or special preparation is required.

Benefits

• Provides an accurate molecular diagnosis.
• Helps distinguish stationary from progressive retinal diseases.
• Enables risk assessment for family members.
• Supports informed reproductive planning.
• Assists clinicians in optimizing long-term ophthalmic care.

When should you consult a doctor?

Seek evaluation if you or your child experiences:

• Persistent night blindness from early childhood.
• Difficulty adapting to darkness.
• Unexplained reduced vision or involuntary eye movements.
• A family history of inherited retinal disorders.

Early genetic diagnosis can help confirm the condition, guide appropriate clinical management, and provide valuable information for affected families.

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