Visual snow syndrome

Summary

Visual snow syndrome (MONDO:0018486) is a disease and 9 clinical trials. A subtype of eye disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 24
• Clinical trials: 9

Clinical features

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0100832	Vitreous floaters	Very frequent (80-99%)
HP:0000360	Tinnitus	Frequent (30-79%)
HP:0000613	Photophobia	Frequent (30-79%)
HP:0000662	Nyctalopia	Frequent (30-79%)
HP:0000716	Depression	Frequent (30-79%)
HP:0000737	Irritability	Frequent (30-79%)
HP:0000739	Anxiety	Frequent (30-79%)
HP:0001337	Tremor	Frequent (30-79%)
HP:0002076	Migraine	Frequent (30-79%)
HP:0002321	Vertigo	Frequent (30-79%)
HP:0002360	Sleep abnormality	Frequent (30-79%)
HP:0003401	Paresthesia	Frequent (30-79%)
HP:0007302	Bipolar affective disorder	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0030786	Photopsia	Frequent (30-79%)
HP:0030833	Neck pain	Frequent (30-79%)
HP:0031987	Diminished ability to concentrate	Frequent (30-79%)
HP:5200217	Depersonalization	Frequent (30-79%)
HP:5200218	Derealization	Frequent (30-79%)
HP:6001103	Entoptic phenomenon	Frequent (30-79%)
HP:0002172	Postural instability	Occasional (5-29%)
HP:0012173	Orthostatic tachycardia	Occasional (5-29%)
HP:0033630	Brain fog	Occasional (5-29%)
HP:0002077	Migraine with aura	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	visual snow syndrome
Mondo ID	MONDO:0018486
Orphanet	420556
ICD-11	806322116
UMLS	C4324662
MedGen	1661883
GARD	0012062
NORD	1929
Is cancer (heuristic)	no

Also known as: visual snow

Disease family

This is a subtype of eye disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › visual snow syndrome

Related subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, lens disorder, keratomalacia, scleral disorder, ocular siderosis, coloboma, luxation of globe, mucopolysaccharidosis type 1, lacrimal apparatus disorder, Foster-Kennedy syndrome, anterior dislocation of lens, uveal disorder, eyelid disorder, ocular hypotension, scotoma, exophthalmos, ophthalmia nodosa, eye degenerative disorder, refractive error, glaucoma, retinal disorder, eye allergy, ocular vascular disorder, optic neuritis, conjunctival disorder, ocular hypertension, Tietz syndrome, Alagille syndrome, glaucoma-sleep apnea syndrome, Marshall syndrome, microcornea-glaucoma-absent frontal sinuses syndrome, nail-patella syndrome, oculodentodigital dysplasia, piebaldism, Sturge-Weber syndrome, cerebrotendinous xanthomatosis, ocular cystinosis, alpha-mannosidosis, megalocornea-intellectual disability syndrome, mucolipidosis type IV, mucopolysaccharidosis type 6, Netherton syndrome, galactosialidosis, Niemann-Pick disease type A, ocular motor apraxia, Cogan type, Peters plus syndrome, isolated Pierre-Robin syndrome, ectodermal dysplasia-blindness syndrome, Sandhoff disease, SHORT syndrome, Sjogren-Larsson syndrome, Smith-Lemli-Opitz syndrome, Tay-Sachs disease, tyrosinemia type II, Ito hypomelanosis, X-linked cone dysfunction syndrome with myopia, red color blindness, oculocerebrorenal syndrome, Lowry-MacLean syndrome, pigment dispersion syndrome, hereditary hyperferritinemia with congenital cataracts, dyssegmental dysplasia-glaucoma syndrome, mevalonic aciduria, familial cavitary optic disk anomaly, blindness - scoliosis - arachnodactyly syndrome, fatty acyl-CoA reductase 1 deficiency, microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, neurotrophic keratopathy, Cogan syndrome, atopic keratoconjunctivitis, rhizomelic chondrodysplasia punctata, Ehlers-Danlos syndrome, kyphoscoliotic type 1, IRVAN syndrome, Rothmund-Thomson syndrome type 2, microcornea-corectopia-macular hypoplasia syndrome, isolated anophthalmia-microphthalmia syndrome, Spasmus nutans, toxic maculopathy due to antimalarial drugs, syndromic recessive X-linked ichthyosis, acute zonal occult outer retinopathy, acute annular outer retinopathy, phakomatosis pigmentovascularis, lamellar ichthyosis, idiopathic linear interstitial keratitis, chondroectodermal dysplasia with night blindness, galactosemia, GM1 gangliosidosis, Gaucher disease, extensive peripapillary myelinated nerve fibers, IgG4-related ophthalmic disorder, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, vernal keratoconjunctivitis, Gardner syndrome, anterior segment dysgenesis, isolated ankyloblepharon filiforme adnatum, hereditary optic neuropathy, essential strabismus, Axenfeld anomaly, eye neoplasm, isolated blepharochalasis, punctate inner choroidopathy, eye infectious disorder, vitreous body disorder, 9q33.3q34.11 microdeletion syndrome, autoimmune/inflammatory optic neuropathy, LTBP2-related ocular dysgenesis, ocular growth disorder, ocular dysgenesis caused by defects in PAX6 regulation, choroidal neovascularization, anterior segment developmental abnormality with extraocular manifestations, congenital optic disk excavation, neuroocular syndrome, isolated angioid streaks, multiple evanescent white dot syndrome, stellate multiform amelanotic choroidopathy, macular telangiectasia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	9

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05524493	Not specified	RECRUITING	High-field MR Imaging in Migraine, Visual Snow and Epilepsy
NCT06018103	Not specified	NOT_YET_RECRUITING	MBCT-vision VSS RCT
NCT06961864	Not specified	RECRUITING	Investigating Brain Function in People With and Without Visual Snow Syndrome Using Adaptation to Visual Stimuli
NCT07110493	Not specified	RECRUITING	Study of Visual Perception Phenomena: Phosphene Mapping Induced by TMS and Its Relationship With Eye Movements
NCT04184726	Not specified	COMPLETED	Mindfulness Based Cognitive Therapy Modified for Visual Symptoms (MBCT-vision)
NCT04902365	Not specified	UNKNOWN	Neurofeedback in Visual Snow
NCT04925232	Not specified	COMPLETED	Transcranial Magnetic Stimulation For Visual Snow Syndrome
NCT05229731	Not specified	WITHDRAWN	Description of the Neurovisual and Radiological Specificities of Patients With Visual Snow Syndrome
NCT05569733	Not specified	COMPLETED	Simultaneous Fluorodeoxyglucose Positron Emission Tomography (PET) and Magnetic Resonance (MR) in Visual Snow Syndrome