Vision disorder

disease
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Also known as disorder of visiondisorder of visual systemvisual disordervisual system disorder

Summary

Vision disorder (MONDO:0021084) is a disease (an umbrella term covering 7 Mondo subtypes) with 7 cohort genes (11 GWAS associations across 8 studies) and 67 clinical trials. Top therapeutic interventions include cyclopentolate, fluorescein, and tropicamide.

At a glance

  • Umbrella term: 7 Mondo subtypes
  • Cohort genes: 7
  • GWAS associations: 11
  • Clinical trials: 67

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namevision disorder
Mondo IDMONDO:0021084
MeSHD014786
NCITC35126
SNOMED CT95677002
UMLSC0042790
MedGen12103
MedDRA10047518
Is cancer (heuristic)no

Also known as: disorder of vision · disorder of visual system · vision disorder · visual disorder · visual system disorder

Data availability: 11 GWAS associations (8 studies).

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorderperceptual disordersvision disorder

Related subtypes (8): apraxia, vestibular disorder, agnosia, inherited retinal dystrophy, hearing disorder, auditory perceptual disorders, allesthesia, hallucinogen-persisting perception disorder

Subtypes (7): visual agnosia, amblyopia, binocular vision disease, color vision disorder, visual pathway disorder, blindness (disorder), Alice in Wonderland syndrome

Genetics & variants

GWAS landscape

11 GWAS associations across 8 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs124096572e-07TRABD2B?
rs93589516e-07GCM2?
rs97915029e-07SDK1?
rs21019381e-06MYH10 - CCDC42?
rs12454892e-06SLC44A3-AS1?
rs99452842e-06RPL12P40 - RN7SKP182?
rs124191214e-06RDX, LINC02715?
rs97527436e-06LALTOP - PXDN?
rs380988e-06MAGI2?
rs46175859e-06ANO5?
rs47899559e-06RBFOX3?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90477701Verma A20249,806430,739Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473445UK Biobank Whole-Genome Sequencing Consortium20251,644456,796Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477700Verma A20241,516118,245Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481108Verma A20241,516118,245Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477699Verma A202497657,683Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435996Zhou W2018732405,654Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90652178Liu TY2025425227,729Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST011826Yoshimura K202100A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic11

MAF distribution

BucketVariants
common (>=0.05)11
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant7
intergenic_variant4

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs12409657147767766C>G,T0.05intron_variantTRABD2B2e-07Tier 4: intronic/intergenic
rs9358951610878459T>A,C0.05intron_variantGCM26e-07Tier 4: intronic/intergenic
rs979150273571976G>A,C0.05intron_variantSDK19e-07Tier 4: intronic/intergenic
rs2101938178717311C>G,T0.05intergenic_variantMYH10 - CCDC421e-06Tier 4: intronic/intergenic
rs1245489194608899G>A,C0.05intron_variantSLC44A3-AS12e-06Tier 4: intronic/intergenic
rs99452841838925354G>A,C,T0.05intergenic_variantRPL12P40 - RN7SKP1822e-06Tier 4: intronic/intergenic
rs1241912111110064827G>A0.05intergenic_variantRDX, LINC027154e-06Tier 4: intronic/intergenic
rs975274321622620G>A0.05intron_variantLALTOP - PXDN6e-06Tier 4: intronic/intergenic
rs38098778609449T>A,C0.05intron_variantMAGI28e-06Tier 4: intronic/intergenic
rs46175851121861312T>A,C0.05intergenic_variantANO59e-06Tier 4: intronic/intergenic
rs47899551779206748G>A0.05intron_variantRBFOX39e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 7 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
MAGI2Orphanet:656Hereditary steroid-resistant nephrotic syndrome
ANO5Orphanet:206549Anoctamin-5-related limb-girdle muscular dystrophy R12
ANO5Orphanet:206599Isolated asymptomatic elevation of creatine phosphokinase
ANO5Orphanet:399096Distal anoctaminopathy
ANO5Orphanet:53697Gnathodiaphyseal dysplasia
ANO5Orphanet:689021Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
RDXOrphanet:90636Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Cohort genes → proteins

7 cohort genes, 7 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only7

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
MAGI2HGNC:18957ENSG00000187391Q86UL8Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2gwas
SDK1HGNC:19307ENSG00000146555Q7Z5N4Protein sidekick-1gwas
RBFOX3HGNC:27097ENSG00000167281A6NFN3RNA binding protein fox-1 homolog 3gwas
ANO5HGNC:27337ENSG00000171714Q75V66Anoctamin-5gwas
SLC44A3HGNC:28689ENSG00000143036Q8N4M1Choline transporter-like protein 3gwas
TRABD2BHGNC:44200ENSG00000269113A6NFA1Metalloprotease TIKI2gwas
RDXHGNC:9944ENSG00000137710P35241Radixingwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
MAGI2Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins.
SDK1Protein sidekick-1Adhesion molecule that promotes lamina-specific synaptic connections in the retina.
RBFOX3RNA binding protein fox-1 homolog 3Pre-mRNA alternative splicing regulator.
ANO5Anoctamin-5Plays a role in plasma membrane repair in a process involving annexins.
TRABD2BMetalloprotease TIKI2Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins.
RDXRadixinProbably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 5 · Druggable fraction: 0.29

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Antibody/Immunoglobulin14.2×0.332
Kinase14.0×0.332
Other/Unknown51.3×0.332

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
MAGI2KinaseyesWW_dom, PDZ, Guanylate_kin-like_dom
SDK1Antibody/ImmunoglobulinyesIg_sub2, Ig_sub, FN3_dom
RBFOX3Other/UnknownnoRRM_dom, Nucleotide-bd_a/b_plait_sf, RBFOX1-3
ANO5Other/UnknownnoAnoctamin, Anoct_dimer, Anoctamin_TM
SLC44A3Other/UnknownnoCholine_transptr-like
TRABD2BOther/UnknownnoTraB/PrgY/GumN_fam, TIKI1/2-like
RDXOther/UnknownnoFERM_domain, Ez/rad/moesin-like, Moesin_tail_sf

Expression context

Cohort genes with no expression data: 0.

6 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)7
unknown0

Top tissues across cohort

TissueCohort genes
popliteal artery2
tibial artery2
Brodmann (1909) area 231
calcaneal tendon1
corpus callosum1
decidua1
cerebellar cortex1
cerebellar hemisphere1
right hemisphere of cerebellum1
cardiac muscle of right atrium1
left ventricle myocardium1
vastus lateralis1
ileal mucosa1
mucosa of transverse colon1
rectum1
right coronary artery1
adrenal tissue1
right adrenal gland cortex1
visceral pleura1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
MAGI2267ubiquitousmarkercalcaneal tendon, corpus callosum, Brodmann (1909) area 23
SDK1183broadmarkerpopliteal artery, decidua, tibial artery
RBFOX3177broadmarkerright hemisphere of cerebellum, cerebellar cortex, cerebellar hemisphere
ANO5220broadmarkercardiac muscle of right atrium, left ventricle myocardium, vastus lateralis
SLC44A3212broadmarkermucosa of transverse colon, rectum, ileal mucosa
TRABD2B148broadyespopliteal artery, tibial artery, right coronary artery
RDX295ubiquitousmarkeradrenal tissue, right adrenal gland cortex, visceral pleura

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
RBFOX34,442
MAGI23,246
RDX3,167
SLC44A3921
SDK1806
ANO5790
TRABD2B256

Structural data

PDB: 2 · AlphaFold-only: 5 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
MAGI2Q86UL85
RDXP352412

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ANO5Q75V6682.22
SLC44A3Q8N4M181.32
SDK1Q7Z5N472.92
TRABD2BA6NFA170.11
RBFOX3A6NFN362.27

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 22. Enrichment computed across 7 evidence-associated genes (6 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
SDK interactions1951.7×0.012SDK1
Cell-Cell communication245.9×0.012MAGI2, SDK1
SLC-mediated bile acid transport1271.9×0.027SLC44A3
Induction of Cell-Cell Fusion1146.4×0.037ANO5
NPAS4 regulates expression of target genes182.8×0.046RBFOX3
Nephrin family interactions179.3×0.046MAGI2
Synthesis of PC168.0×0.046SLC44A3
Late SARS-CoV-2 Infection Events148.8×0.053ANO5
Cell-cell junction organization141.4×0.053SDK1
Regulation of clotting cascade138.8×0.053ANO5
Recycling pathway of L1137.3×0.053RDX
Sensory processing of sound by outer hair cells of the cochlea134.0×0.053RDX
Cell junction organization131.2×0.054SDK1
Sensory processing of sound by inner hair cells of the cochlea127.2×0.057RDX
Stimuli-sensing channels122.7×0.064ANO5
Ion channel transport116.0×0.084ANO5
SARS-CoV-2 Infection113.4×0.094ANO5
SARS-CoV Infections19.2×0.126ANO5
Viral Infection Pathways15.1×0.208ANO5
Transport of small molecules14.2×0.229ANO5
Infectious disease14.1×0.229ANO5
Disease12.2×0.380ANO5

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
regulation of adherens junction organization12407.4×0.020RDX
regulation of postsynaptic neurotransmitter receptor diffusion trapping1802.5×0.020RDX
regulation of Rap protein signal transduction1601.9×0.020RDX
establishment of protein localization to plasma membrane1481.5×0.020RDX
regulation of organelle assembly1481.5×0.020RDX
microvillus assembly1267.5×0.020RDX
positive regulation of early endosome to late endosome transport1267.5×0.020RDX
regulation of dendritic spine development1240.7×0.020SDK1
positive regulation of protein localization to early endosome1240.7×0.020RDX
podocyte development1218.9×0.020MAGI2
cellular response to thyroid hormone stimulus1218.9×0.020RDX
obsolete protein kinase A signaling1200.6×0.020RDX
negative regulation of activin receptor signaling pathway1200.6×0.020MAGI2
nerve growth factor signaling pathway1185.2×0.020MAGI2
apical protein localization1141.6×0.023RDX
behavioral response to cocaine1120.4×0.023SDK1
phosphatidylcholine biosynthetic process1114.6×0.023SLC44A3
barbed-end actin filament capping1114.6×0.023RDX
establishment of endothelial barrier1109.4×0.023RDX
SMAD protein signal transduction1104.7×0.023MAGI2
positive regulation of receptor internalization1100.3×0.023MAGI2
retina layer formation192.6×0.023SDK1
cellular response to platelet-derived growth factor stimulus192.6×0.023RDX
receptor clustering189.2×0.023MAGI2
plasma membrane repair183.0×0.023ANO5
clathrin-dependent endocytosis183.0×0.023MAGI2
nervous system development213.1×0.023MAGI2, RBFOX3
cellular response to nerve growth factor stimulus166.9×0.027MAGI2
Wnt signaling pathway, planar cell polarity pathway165.1×0.027MAGI2
positive regulation of G1/S transition of mitotic cell cycle157.3×0.029RDX

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 7

Druggability breadth: 1 of 7 evidence-associated genes (14%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
MAGI200
SDK100
RBFOX300
ANO500
SLC44A300
TRABD2B00
RDX00

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
RDX1Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1MAGI2
DDruggable family + AlphaFold only, no drug1SDK1
EDifficult family or no structure, no drug5RBFOX3, ANO5, SLC44A3, TRABD2B, RDX

Undrugged target profiles

7 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
MAGI20
SDK10
RBFOX30
ANO50
SLC44A30
TRABD2B0
RDX1

Clinical trials & evidence

Clinical trials

Clinical trials: 67.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified52
PHASE2/PHASE34
PHASE1/PHASE24
PHASE42
PHASE32
PHASE21
PHASE11
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT01546402PHASE4COMPLETEDIntraoperative Dexamethasone Implant Improves Outcome of Cataract Surgery With Diabetic Macular Edema
NCT06077682PHASE4UNKNOWNCycloplegic Refraction in Pediatric Patients With Esotropia
NCT03913143PHASE2/PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
NCT06891443PHASE3RECRUITINGStudy to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
NCT07140783PHASE3RECRUITINGOPI-NXYDLD-303 Safety and Efficacy of Phentolamine Ophthalmic Solution in Keratorefractive Surgery Participants With Decreased Mesopic Visual Acuity
NCT04855045PHASE2/PHASE3UNKNOWNAn Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT05158296PHASE2/PHASE3TERMINATEDStudy to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
NCT05176717PHASE2/PHASE3TERMINATEDStudy to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
NCT04123626PHASE1/PHASE2ACTIVE_NOT_RECRUITINGA Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT06627179PHASE2RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT03780257PHASE1/PHASE2COMPLETEDStudy to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene
NCT03872479PHASE1/PHASE2UNKNOWNSingle Ascending Dose Study in Participants With LCA10
NCT03913130PHASE1/PHASE2TERMINATEDExtension Study to Study PQ-110-001 (NCT03140969)
NCT02540122PHASE1COMPLETEDPilot Clinical Evaluation of Approved Contact Lenses
NCT06451172EARLY_PHASE1RECRUITINGNovel Antisense Oligonucleotide Eye Drops for Treating Antibiotic-Resistant Bacterial Keratitis
NCT02911805Not specifiedACTIVE_NOT_RECRUITINGBridging Animal and Human Models of Exercise-induced Visual Rehabilitation
NCT05600140Not specifiedRECRUITINGViewing Strategy Training in Children With (Cerebral) Visual Impairment
NCT05921240Not specifiedENROLLING_BY_INVITATIONUnmet Needs, Barriers and Facilitators to Vision Services for Children and Adolescents With Special Vision
NCT06098677Not specifiedNOT_YET_RECRUITINGEffect of Carotenoids Supplementation on Visual Function in Chinese Subjects
NCT06500728Not specifiedRECRUITINGVisual Involvement in Giant Cell Arteritis
NCT06882434Not specifiedNOT_YET_RECRUITINGHolistic Integration for Healthy Longevity and Aging in Place
NCT06992622Not specifiedRECRUITINGZhejiang Adolescent Spine and Vision Health Cohort: A Longitudinal Database Analysis
NCT07085533Not specifiedRECRUITINGNatural History Study of Inherited Retinal Diseases
NCT07559292Not specifiedENROLLING_BY_INVITATIONImplementing Artificial Intelligence to Prevent Vision Loss From Diabetes
NCT00013936Not specifiedCOMPLETEDA Novel Acuity Testing Method
NCT00395122Not specifiedCOMPLETEDOptical Coherence Tomography Measurements in Eyes With Band Atrophy
NCT00985231Not specifiedCOMPLETEDPerformance Evaluation of Contact Lenses Among a Population of Adapted Contact Lens Wearers
NCT01318577Not specifiedCOMPLETEDStudy of A New Contact Lens Cleaning and Disinfecting Solution
NCT01698749Not specifiedCOMPLETEDEffect of Intravitreal Long Acting Dexamethasone Implant, Ozurdex in Patients With Diabetic Macular Edema
NCT01698788Not specifiedCOMPLETEDEffect of Intraoperative Dexamethasone Implant in Taut Posterior Hyaloid Removal in Diabetic Macular Edema
NCT02234635Not specifiedUNKNOWNVisual Quality Change of Eyes Implanted With Diffractive Multifocal Intraocular Lens After Cataract Surgery
NCT02485054Not specifiedCOMPLETEDA Predictive Score for the Ischemic Etiology of a Transient Visual Disturbances (VASCO)
NCT02529098Not specifiedWITHDRAWNModification in Cortical Activation in Pseudophakic Patients With Visual Difficulties After a Multifocal Implantation
NCT02543528Not specifiedCOMPLETEDA Clinical Trial to Evaluate Investigational Silicone Hydrogel Contact Lenses Worn Continuously for One Week
NCT02571647Not specifiedCOMPLETEDEvaluation of Screening for Visual Disorders of the Old Subject in Consultation Memory
NCT02595502Not specifiedCOMPLETEDClinical Evaluation of Two Silicone Hydrogel Daily Disposable Contact Lenses
NCT02625233Not specifiedCOMPLETEDClinical Long-Term Evaluation of Approved and Investigational Contact Lenses
NCT02669095Not specifiedCOMPLETEDClinical Evaluation of Approved and Investigational Contact Lenses
NCT02679313Not specifiedWITHDRAWNEffect of Lens Presentation on the Clinical Oculomotor Assessment at Near
NCT02680223Not specifiedCOMPLETEDEfficacy of Coloured Overlays and Lenses for Reading Difficulty

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
CYCLOPENTOLATE41
FLUORESCEIN41
TROPICAMIDE41
COMFILCON A31
ETAFILCON A31
SEPOFARSEN24
BRINRETIGENE VESGEDPARVOVEC21
ISOXAFLUTOLE21
ULTEVURSEN21
CHEMBL145755001
CHEMBL17775601