Visual pathway disorder

Summary

Visual pathway disorder (MONDO:0001834) is a disease (an umbrella term covering 5 Mondo subtypes) with 5 GWAS associations across 5 studies and 5 clinical trials. Top therapeutic interventions include citicoline. A subtype of brain disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• GWAS associations: 5
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	visual pathway disorder
Mondo ID	MONDO:0001834
DOID	DOID:1393
ICD-10-CM	H47.9
NCIT	C35342
SNOMED CT	54767005, 95776004
UMLS	C0155287
MedGen	57831
Anatomy (UBERON)	UBERON:0001908
Is cancer (heuristic)	no

Also known as: disease of optic tract · disease or disorder of optic tract · disorder of optic tract · optic tract disease · optic tract disease or disorder · visual pathway disorder

Data availability: 5 GWAS associations (5 studies).

Disease family

This is a subtype of brain 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 › nervous system disorder › central nervous system disorder › brain disorder › visual pathway disorder

Related subtypes (70): leukoencephalopathy, megalencephalic, encephalopathy, acute, infection-induced, diabetic encephalopathy, complex cortical dysplasia with other brain malformations, hydrocephalus, brain compression, cerebral sarcoidosis, hepatic encephalopathy, central nervous system origin vertigo, cerebellar disorder, cerebritis, olfactory nerve disorder, thalamic disorder, pituitary gland disorder, disorder of optic chiasm, basal ganglia disorder, epilepsy, mental disorder, central nervous system cyst, migraine disorder, multiple sclerosis, prion disease, carbon monoxide-induced delayed encephalopathy, cerebral malaria, akinetic mutism, bulbar polio, Reye syndrome, brain edema, encephalomalacia, intracranial hypertension, intracranial hypotension, Wernicke encephalopathy, encephalopathy, recurrent, of childhood, XK aprosencephaly, progressive bulbar palsy, cerebrovascular disorder, glycine encephalopathy, autosomal recessive frontotemporal pachygyria, occipital pachygyria and polymicrogyria, insomnia, narcolepsy-cataplexy syndrome, megalencephaly, meningoencephalocele, cerebral cortical dysplasia, encephaloclastic disorder, bilirubin encephalopathy, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy without cataplexy, hypothalamic hamartomas with gelastic seizures, encephalitis, cerebral lipidosis with dementia, brain neoplasm, colpocephaly, corpus callosum agenesis of blepharophimosis robin type, corpus callosum dysgenesis X-linked recessive, corpus callosum dysgenesis cleft spasm, corpus callosum dysgenesis hypopituitarism, cerebral degeneration, acute bilirubin encephalopathy, chronic bilirubin encephalopathy, atelencephaly, aprosencephaly, brain injury, traumatic encephalopathy, cluster headache syndrome, cerebral cortex disorder, midbrain disorder, encephalopathy due to mitochondrial and peroxisomal fission defect, brain malformations with or without urinary tract defects, encephalopathy, acute transient

Subtypes (5): retinal nerve fiber layer disorder, visual cortex disorder, coloboma of optic nerve, optic pathway glioma, optic tract meningioma

Genetics & variants

GWAS landscape

5 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs944801	2e-14	CDKN2B-AS1	G	0.11
rs12615158	1e-13	PNPT1 - EFEMP1	C	0.12
rs6730839	2e-13	PNPT1 - EFEMP1	G	0.11
rs7030641	3e-12	CDKN2B-AS1	C	0.09
chr14:60957171	8e-12		G	0.1

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475896	Verma A	2024	11,247	429,671	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477760	Verma A	2024	3,917	114,035	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480096	Verma A	2024	3,917	114,035	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477759	Verma A	2024	1,136	57,473	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436015	Zhou W	2018	370	401,245	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	5
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	2
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs944801	9	22051671	G>A,C	0.427	intron_variant	CDKN2B-AS1	2e-14	Tier 4: intronic/intergenic
rs12615158	2	55805864	C>G,T	0.238	intergenic_variant	PNPT1 - EFEMP1	1e-13	Tier 4: intronic/intergenic
rs6730839	2	55820972	G>A,C,T	0.178	intergenic_variant	PNPT1 - EFEMP1	2e-13	Tier 4: intronic/intergenic
rs7030641	9	22054041	C>T	0.344	intron_variant	CDKN2B-AS1	3e-12	Tier 4: intronic/intergenic
chr14:60957171				0.45			8e-12	Tier 4: intronic/intergenic

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00404729	PHASE4	COMPLETED	Neural Conduction Along the Visual Pathways After Oral Treatment With Citicoline in Patients With Optic Nerve Diseases
NCT04607369	Not specified	ENROLLING_BY_INVITATION	Implementation of the NEDS EyeCTester App
NCT03318549	Not specified	COMPLETED	BCI and Evaluation of Visual and Task Performance in Subjects With Eye Diseases
NCT03741595	Not specified	UNKNOWN	Visual Stimulus Competition
NCT04110015	Not specified	TERMINATED	Assessment of Visual Function in Ophthalmic Disorders Using Virtual Visual Field Analysis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CITICOLINE	3	2