Learn About X-Linked Congenital Stationary Night Blindness

What is the definition of X-Linked Congenital Stationary Night Blindness?
X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.
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What are the alternative names for X-Linked Congenital Stationary Night Blindness?
  • X-linked CSNB
  • Congenital stationary night blindness with myopia
  • Hemeralopia-myopia
  • Myopia-night blindness
How is X-Linked Congenital Stationary Night Blindness diagnosed?
Yes. About 45% of individuals with XLCSNB have the complete form, which is caused by mutations in the NYX gene. The other 55% have the incomplete form, which is caused by mutations in the CACNA1F gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Who are the top X-Linked Congenital Stationary Night Blindness Local Doctors?
CZ
Christina Zeitz
Elite
Highly rated in
15
conditions

Institut De La Vision

Paris, FR 

Christina Zeitz is in Paris, France. Zeitz is rated as an Elite expert by MediFind in the treatment of X-Linked Congenital Stationary Night Blindness. She is also highly rated in 15 other conditions, according to our data. Her top areas of expertise are X-Linked Congenital Stationary Night Blindness, Cone-Rod Dystrophy, Late-Onset Retinal Degeneration, and Retinopathy Pigmentary Mental Retardation.

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IA
Isabelle S. Audo
Elite
Highly rated in
23
conditions

Institut De La Vision

Paris, FR 

Isabelle Audo is in Paris, France. Audo is rated as an Elite expert by MediFind in the treatment of X-Linked Congenital Stationary Night Blindness. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, X-Linked Congenital Stationary Night Blindness, and Late-Onset Retinal Degeneration.

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ED
Elfride W. De Baere
Elite
Highly rated in
26
conditions

Ghent University

Gent, VLG, BE 

Elfride De Baere is in Gent, Belgium. De Baere is rated as an Elite expert by MediFind in the treatment of X-Linked Congenital Stationary Night Blindness. They are also highly rated in 26 other conditions, according to our data. Their top areas of expertise are Cone-Rod Dystrophy, Leber Congenital Amaurosis, Retinitis Pigmentosa, and Retinopathy Pigmentary Mental Retardation.

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What are the latest X-Linked Congenital Stationary Night Blindness Clinical Trials?
Foundation Fighting Blindness My Retina Tracker Registry
Status: Recruiting
Start Date: June 2014
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Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
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What are the Latest Advances for X-Linked Congenital Stationary Night Blindness?
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Journal: Genes
Published: March 06, 2021
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Summary: Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Journal: International journal of molecular sciences
Published: March 06, 2021
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Summary: Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
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A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Journal: Genes
Published: January 30, 2021
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Summary: A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
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