Rare Nephrology News
Disease Profile
Visual snow syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
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ICD-10
H53.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Visual snow
Categories
Nervous System Diseases
Summary
Visual snow
Symptoms
Symptoms of visual snow syndrome may include:[2]
- Tiny, snow-like dots across the visual field
- Sensitivity to light (photophobia)
- Continuing to see an image after it is no longer in the field of vision (palinopsia)
- Difficulty seeing at night (nyctalopia)
- Seeing images from within the eye itself (entoptic phenomena)
Less common symptoms may include migraines, ringing in the ears (tinnitus), and fatigue. In general, the symptoms of visual snow syndrome don't change with time. Some people with visual snow syndrome have depression or anxiety related to their symptoms. The symptoms of visual snow syndrome can start at any age, but usually occur in early adulthood.[2][3]
Diagnosis
Treatment
Specialists involved in the care of someone with visual snow syndrome may include:
Neurologist Ophthalmologist - Psychologist
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Providing General Support
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American Tinnitus Association
8300 Boone Blvd
Suite 500
Vienna, VA 22182
Telephone: 800-634-8978
E-mail: https://www.ata.org/contact
Website: https://www.ata.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The Eye on Vision Foundation is a non-profit organization that covers Visual snow syndrome and has information on the condition.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Visual snow syndrome. Click on the link to view a sample search on this topic.
References
- Puledda F, Schankin C, Digre K, Goadsby PJ. Visual snow syndrome: what we know so far. Curr Opin Neurol. February 2018; 31(1):52-58. https://www.ncbi.nlm.nih.gov/pubmed/29140814.
- Puledda F, Schankin C, Goadsby PJ. Visual snow syndrome: A clinical and phenotypical description of 1,100 cases. Neurology. 2020; 94(6):e564-e574. https://pubmed.ncbi.nlm.nih.gov/31941797.
- Traber GL, Piccirelli M, Michels L. Visual snow syndrome: a review on diagnosis, pathophysiology, and treatment. Curr Opin Neurol. 2020;33(1):74-78. 2020; 33(1):74-78. https://pubmed.ncbi.nlm.nih.gov/31714263.
- Visual Snow Syndrome. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/visual-snow-syndrome/.
- Kondziella D, Olsen MH, Dreier JP. Prevalence of visual snow syndrome in the UK. Eur J Neurol. 2020; 27(5):764-772. https://pubmed.ncbi.nlm.nih.gov/31714263.
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