Vision disorder
diseaseOn this page
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
| Field | Value |
|---|---|
| Canonical name | vision disorder |
| Mondo ID | MONDO:0021084 |
| MeSH | D014786 |
| NCIT | C35126 |
| SNOMED CT | 95677002 |
| UMLS | C0042790 |
| MedGen | 12103 |
| MedDRA | 10047518 |
| 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 disorder › perceptual disorders › vision 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
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12409657 | 2e-07 | TRABD2B | ? | |
| rs9358951 | 6e-07 | GCM2 | ? | |
| rs9791502 | 9e-07 | SDK1 | ? | |
| rs2101938 | 1e-06 | MYH10 - CCDC42 | ? | |
| rs1245489 | 2e-06 | SLC44A3-AS1 | ? | |
| rs9945284 | 2e-06 | RPL12P40 - RN7SKP182 | ? | |
| rs12419121 | 4e-06 | RDX, LINC02715 | ? | |
| rs9752743 | 6e-06 | LALTOP - PXDN | ? | |
| rs38098 | 8e-06 | MAGI2 | ? | |
| rs4617585 | 9e-06 | ANO5 | ? | |
| rs4789955 | 9e-06 | RBFOX3 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477701 | Verma A | 2024 | 9,806 | 430,739 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473445 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,644 | 456,796 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90477700 | Verma A | 2024 | 1,516 | 118,245 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481108 | Verma A | 2024 | 1,516 | 118,245 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477699 | Verma A | 2024 | 976 | 57,683 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435996 | Zhou W | 2018 | 732 | 405,654 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90652178 | Liu TY | 2025 | 425 | 227,729 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST011826 | Yoshimura K | 2021 | 0 | 0 | A 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)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 11 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 11 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
| intergenic_variant | 4 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12409657 | 1 | 47767766 | C>G,T | 0.05 | intron_variant | TRABD2B | 2e-07 | Tier 4: intronic/intergenic |
| rs9358951 | 6 | 10878459 | T>A,C | 0.05 | intron_variant | GCM2 | 6e-07 | Tier 4: intronic/intergenic |
| rs9791502 | 7 | 3571976 | G>A,C | 0.05 | intron_variant | SDK1 | 9e-07 | Tier 4: intronic/intergenic |
| rs2101938 | 17 | 8717311 | C>G,T | 0.05 | intergenic_variant | MYH10 - CCDC42 | 1e-06 | Tier 4: intronic/intergenic |
| rs1245489 | 1 | 94608899 | G>A,C | 0.05 | intron_variant | SLC44A3-AS1 | 2e-06 | Tier 4: intronic/intergenic |
| rs9945284 | 18 | 38925354 | G>A,C,T | 0.05 | intergenic_variant | RPL12P40 - RN7SKP182 | 2e-06 | Tier 4: intronic/intergenic |
| rs12419121 | 11 | 110064827 | G>A | 0.05 | intergenic_variant | RDX, LINC02715 | 4e-06 | Tier 4: intronic/intergenic |
| rs9752743 | 2 | 1622620 | G>A | 0.05 | intron_variant | LALTOP - PXDN | 6e-06 | Tier 4: intronic/intergenic |
| rs38098 | 7 | 78609449 | T>A,C | 0.05 | intron_variant | MAGI2 | 8e-06 | Tier 4: intronic/intergenic |
| rs4617585 | 11 | 21861312 | T>A,C | 0.05 | intergenic_variant | ANO5 | 9e-06 | Tier 4: intronic/intergenic |
| rs4789955 | 17 | 79206748 | G>A | 0.05 | intron_variant | RBFOX3 | 9e-06 | Tier 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)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MAGI2 | Orphanet:656 | Hereditary steroid-resistant nephrotic syndrome |
| ANO5 | Orphanet:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 |
| ANO5 | Orphanet:206599 | Isolated asymptomatic elevation of creatine phosphokinase |
| ANO5 | Orphanet:399096 | Distal anoctaminopathy |
| ANO5 | Orphanet:53697 | Gnathodiaphyseal dysplasia |
| ANO5 | Orphanet:689021 | Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome |
| RDX | Orphanet:90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB |
Cohort genes → proteins
7 cohort genes, 7 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| gwas_only | 7 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| MAGI2 | HGNC:18957 | ENSG00000187391 | Q86UL8 | Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 | gwas |
| SDK1 | HGNC:19307 | ENSG00000146555 | Q7Z5N4 | Protein sidekick-1 | gwas |
| RBFOX3 | HGNC:27097 | ENSG00000167281 | A6NFN3 | RNA binding protein fox-1 homolog 3 | gwas |
| ANO5 | HGNC:27337 | ENSG00000171714 | Q75V66 | Anoctamin-5 | gwas |
| SLC44A3 | HGNC:28689 | ENSG00000143036 | Q8N4M1 | Choline transporter-like protein 3 | gwas |
| TRABD2B | HGNC:44200 | ENSG00000269113 | A6NFA1 | Metalloprotease TIKI2 | gwas |
| RDX | HGNC:9944 | ENSG00000137710 | P35241 | Radixin | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MAGI2 | Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 | Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. |
| SDK1 | Protein sidekick-1 | Adhesion molecule that promotes lamina-specific synaptic connections in the retina. |
| RBFOX3 | RNA binding protein fox-1 homolog 3 | Pre-mRNA alternative splicing regulator. |
| ANO5 | Anoctamin-5 | Plays a role in plasma membrane repair in a process involving annexins. |
| TRABD2B | Metalloprotease TIKI2 | Metalloprotease 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. |
| RDX | Radixin | Probably 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.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 4.2× | 0.332 |
| Kinase | 1 | 4.0× | 0.332 |
| Other/Unknown | 5 | 1.3× | 0.332 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| MAGI2 | Kinase | yes | WW_dom, PDZ, Guanylate_kin-like_dom | |
| SDK1 | Antibody/Immunoglobulin | yes | Ig_sub2, Ig_sub, FN3_dom | |
| RBFOX3 | Other/Unknown | no | RRM_dom, Nucleotide-bd_a/b_plait_sf, RBFOX1-3 | |
| ANO5 | Other/Unknown | no | Anoctamin, Anoct_dimer, Anoctamin_TM | |
| SLC44A3 | Other/Unknown | no | Choline_transptr-like | |
| TRABD2B | Other/Unknown | no | TraB/PrgY/GumN_fam, TIKI1/2-like | |
| RDX | Other/Unknown | no | FERM_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)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| popliteal artery | 2 |
| tibial artery | 2 |
| Brodmann (1909) area 23 | 1 |
| calcaneal tendon | 1 |
| corpus callosum | 1 |
| decidua | 1 |
| cerebellar cortex | 1 |
| cerebellar hemisphere | 1 |
| right hemisphere of cerebellum | 1 |
| cardiac muscle of right atrium | 1 |
| left ventricle myocardium | 1 |
| vastus lateralis | 1 |
| ileal mucosa | 1 |
| mucosa of transverse colon | 1 |
| rectum | 1 |
| right coronary artery | 1 |
| adrenal tissue | 1 |
| right adrenal gland cortex | 1 |
| visceral pleura | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MAGI2 | 267 | ubiquitous | marker | calcaneal tendon, corpus callosum, Brodmann (1909) area 23 |
| SDK1 | 183 | broad | marker | popliteal artery, decidua, tibial artery |
| RBFOX3 | 177 | broad | marker | right hemisphere of cerebellum, cerebellar cortex, cerebellar hemisphere |
| ANO5 | 220 | broad | marker | cardiac muscle of right atrium, left ventricle myocardium, vastus lateralis |
| SLC44A3 | 212 | broad | marker | mucosa of transverse colon, rectum, ileal mucosa |
| TRABD2B | 148 | broad | yes | popliteal artery, tibial artery, right coronary artery |
| RDX | 295 | ubiquitous | marker | adrenal tissue, right adrenal gland cortex, visceral pleura |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| RBFOX3 | 4,442 |
| MAGI2 | 3,246 |
| RDX | 3,167 |
| SLC44A3 | 921 |
| SDK1 | 806 |
| ANO5 | 790 |
| TRABD2B | 256 |
Structural data
PDB: 2 · AlphaFold-only: 5 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MAGI2 | Q86UL8 | 5 |
| RDX | P35241 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| ANO5 | Q75V66 | 82.22 |
| SLC44A3 | Q8N4M1 | 81.32 |
| SDK1 | Q7Z5N4 | 72.92 |
| TRABD2B | A6NFA1 | 70.11 |
| RBFOX3 | A6NFN3 | 62.27 |
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.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| SDK interactions | 1 | 951.7× | 0.012 | SDK1 |
| Cell-Cell communication | 2 | 45.9× | 0.012 | MAGI2, SDK1 |
| SLC-mediated bile acid transport | 1 | 271.9× | 0.027 | SLC44A3 |
| Induction of Cell-Cell Fusion | 1 | 146.4× | 0.037 | ANO5 |
| NPAS4 regulates expression of target genes | 1 | 82.8× | 0.046 | RBFOX3 |
| Nephrin family interactions | 1 | 79.3× | 0.046 | MAGI2 |
| Synthesis of PC | 1 | 68.0× | 0.046 | SLC44A3 |
| Late SARS-CoV-2 Infection Events | 1 | 48.8× | 0.053 | ANO5 |
| Cell-cell junction organization | 1 | 41.4× | 0.053 | SDK1 |
| Regulation of clotting cascade | 1 | 38.8× | 0.053 | ANO5 |
| Recycling pathway of L1 | 1 | 37.3× | 0.053 | RDX |
| Sensory processing of sound by outer hair cells of the cochlea | 1 | 34.0× | 0.053 | RDX |
| Cell junction organization | 1 | 31.2× | 0.054 | SDK1 |
| Sensory processing of sound by inner hair cells of the cochlea | 1 | 27.2× | 0.057 | RDX |
| Stimuli-sensing channels | 1 | 22.7× | 0.064 | ANO5 |
| Ion channel transport | 1 | 16.0× | 0.084 | ANO5 |
| SARS-CoV-2 Infection | 1 | 13.4× | 0.094 | ANO5 |
| SARS-CoV Infections | 1 | 9.2× | 0.126 | ANO5 |
| Viral Infection Pathways | 1 | 5.1× | 0.208 | ANO5 |
| Transport of small molecules | 1 | 4.2× | 0.229 | ANO5 |
| Infectious disease | 1 | 4.1× | 0.229 | ANO5 |
| Disease | 1 | 2.2× | 0.380 | ANO5 |
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 term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of adherens junction organization | 1 | 2407.4× | 0.020 | RDX |
| regulation of postsynaptic neurotransmitter receptor diffusion trapping | 1 | 802.5× | 0.020 | RDX |
| regulation of Rap protein signal transduction | 1 | 601.9× | 0.020 | RDX |
| establishment of protein localization to plasma membrane | 1 | 481.5× | 0.020 | RDX |
| regulation of organelle assembly | 1 | 481.5× | 0.020 | RDX |
| microvillus assembly | 1 | 267.5× | 0.020 | RDX |
| positive regulation of early endosome to late endosome transport | 1 | 267.5× | 0.020 | RDX |
| regulation of dendritic spine development | 1 | 240.7× | 0.020 | SDK1 |
| positive regulation of protein localization to early endosome | 1 | 240.7× | 0.020 | RDX |
| podocyte development | 1 | 218.9× | 0.020 | MAGI2 |
| cellular response to thyroid hormone stimulus | 1 | 218.9× | 0.020 | RDX |
| obsolete protein kinase A signaling | 1 | 200.6× | 0.020 | RDX |
| negative regulation of activin receptor signaling pathway | 1 | 200.6× | 0.020 | MAGI2 |
| nerve growth factor signaling pathway | 1 | 185.2× | 0.020 | MAGI2 |
| apical protein localization | 1 | 141.6× | 0.023 | RDX |
| behavioral response to cocaine | 1 | 120.4× | 0.023 | SDK1 |
| phosphatidylcholine biosynthetic process | 1 | 114.6× | 0.023 | SLC44A3 |
| barbed-end actin filament capping | 1 | 114.6× | 0.023 | RDX |
| establishment of endothelial barrier | 1 | 109.4× | 0.023 | RDX |
| SMAD protein signal transduction | 1 | 104.7× | 0.023 | MAGI2 |
| positive regulation of receptor internalization | 1 | 100.3× | 0.023 | MAGI2 |
| retina layer formation | 1 | 92.6× | 0.023 | SDK1 |
| cellular response to platelet-derived growth factor stimulus | 1 | 92.6× | 0.023 | RDX |
| receptor clustering | 1 | 89.2× | 0.023 | MAGI2 |
| plasma membrane repair | 1 | 83.0× | 0.023 | ANO5 |
| clathrin-dependent endocytosis | 1 | 83.0× | 0.023 | MAGI2 |
| nervous system development | 2 | 13.1× | 0.023 | MAGI2, RBFOX3 |
| cellular response to nerve growth factor stimulus | 1 | 66.9× | 0.027 | MAGI2 |
| Wnt signaling pathway, planar cell polarity pathway | 1 | 65.1× | 0.027 | MAGI2 |
| positive regulation of G1/S transition of mitotic cell cycle | 1 | 57.3× | 0.029 | RDX |
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
| Symbol | Molecules | Max phase |
|---|---|---|
| MAGI2 | 0 | 0 |
| SDK1 | 0 | 0 |
| RBFOX3 | 0 | 0 |
| ANO5 | 0 | 0 |
| SLC44A3 | 0 | 0 |
| TRABD2B | 0 | 0 |
| RDX | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| RDX | 1 | Binding: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):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | MAGI2 |
| D | Druggable family + AlphaFold only, no drug | 1 | SDK1 |
| E | Difficult family or no structure, no drug | 5 | RBFOX3, ANO5, SLC44A3, TRABD2B, RDX |
Undrugged target profiles
7 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| MAGI2 | 0 | — |
| SDK1 | 0 | — |
| RBFOX3 | 0 | — |
| ANO5 | 0 | — |
| SLC44A3 | 0 | — |
| TRABD2B | 0 | — |
| RDX | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 67.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 52 |
| PHASE2/PHASE3 | 4 |
| PHASE1/PHASE2 | 4 |
| PHASE4 | 2 |
| PHASE3 | 2 |
| PHASE2 | 1 |
| PHASE1 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01546402 | PHASE4 | COMPLETED | Intraoperative Dexamethasone Implant Improves Outcome of Cataract Surgery With Diabetic Macular Edema |
| NCT06077682 | PHASE4 | UNKNOWN | Cycloplegic Refraction in Pediatric Patients With Esotropia |
| NCT03913143 | PHASE2/PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE) |
| NCT06891443 | PHASE3 | RECRUITING | Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION) |
| NCT07140783 | PHASE3 | RECRUITING | OPI-NXYDLD-303 Safety and Efficacy of Phentolamine Ophthalmic Solution in Keratorefractive Surgery Participants With Decreased Mesopic Visual Acuity |
| NCT04855045 | PHASE2/PHASE3 | UNKNOWN | An 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. |
| NCT05158296 | PHASE2/PHASE3 | TERMINATED | Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius) |
| NCT05176717 | PHASE2/PHASE3 | TERMINATED | Study 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) |
| NCT04123626 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | A 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 |
| NCT06627179 | PHASE2 | RECRUITING | Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT03780257 | PHASE1/PHASE2 | COMPLETED | Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene |
| NCT03872479 | PHASE1/PHASE2 | UNKNOWN | Single Ascending Dose Study in Participants With LCA10 |
| NCT03913130 | PHASE1/PHASE2 | TERMINATED | Extension Study to Study PQ-110-001 (NCT03140969) |
| NCT02540122 | PHASE1 | COMPLETED | Pilot Clinical Evaluation of Approved Contact Lenses |
| NCT06451172 | EARLY_PHASE1 | RECRUITING | Novel Antisense Oligonucleotide Eye Drops for Treating Antibiotic-Resistant Bacterial Keratitis |
| NCT02911805 | Not specified | ACTIVE_NOT_RECRUITING | Bridging Animal and Human Models of Exercise-induced Visual Rehabilitation |
| NCT05600140 | Not specified | RECRUITING | Viewing Strategy Training in Children With (Cerebral) Visual Impairment |
| NCT05921240 | Not specified | ENROLLING_BY_INVITATION | Unmet Needs, Barriers and Facilitators to Vision Services for Children and Adolescents With Special Vision |
| NCT06098677 | Not specified | NOT_YET_RECRUITING | Effect of Carotenoids Supplementation on Visual Function in Chinese Subjects |
| NCT06500728 | Not specified | RECRUITING | Visual Involvement in Giant Cell Arteritis |
| NCT06882434 | Not specified | NOT_YET_RECRUITING | Holistic Integration for Healthy Longevity and Aging in Place |
| NCT06992622 | Not specified | RECRUITING | Zhejiang Adolescent Spine and Vision Health Cohort: A Longitudinal Database Analysis |
| NCT07085533 | Not specified | RECRUITING | Natural History Study of Inherited Retinal Diseases |
| NCT07559292 | Not specified | ENROLLING_BY_INVITATION | Implementing Artificial Intelligence to Prevent Vision Loss From Diabetes |
| NCT00013936 | Not specified | COMPLETED | A Novel Acuity Testing Method |
| NCT00395122 | Not specified | COMPLETED | Optical Coherence Tomography Measurements in Eyes With Band Atrophy |
| NCT00985231 | Not specified | COMPLETED | Performance Evaluation of Contact Lenses Among a Population of Adapted Contact Lens Wearers |
| NCT01318577 | Not specified | COMPLETED | Study of A New Contact Lens Cleaning and Disinfecting Solution |
| NCT01698749 | Not specified | COMPLETED | Effect of Intravitreal Long Acting Dexamethasone Implant, Ozurdex in Patients With Diabetic Macular Edema |
| NCT01698788 | Not specified | COMPLETED | Effect of Intraoperative Dexamethasone Implant in Taut Posterior Hyaloid Removal in Diabetic Macular Edema |
| NCT02234635 | Not specified | UNKNOWN | Visual Quality Change of Eyes Implanted With Diffractive Multifocal Intraocular Lens After Cataract Surgery |
| NCT02485054 | Not specified | COMPLETED | A Predictive Score for the Ischemic Etiology of a Transient Visual Disturbances (VASCO) |
| NCT02529098 | Not specified | WITHDRAWN | Modification in Cortical Activation in Pseudophakic Patients With Visual Difficulties After a Multifocal Implantation |
| NCT02543528 | Not specified | COMPLETED | A Clinical Trial to Evaluate Investigational Silicone Hydrogel Contact Lenses Worn Continuously for One Week |
| NCT02571647 | Not specified | COMPLETED | Evaluation of Screening for Visual Disorders of the Old Subject in Consultation Memory |
| NCT02595502 | Not specified | COMPLETED | Clinical Evaluation of Two Silicone Hydrogel Daily Disposable Contact Lenses |
| NCT02625233 | Not specified | COMPLETED | Clinical Long-Term Evaluation of Approved and Investigational Contact Lenses |
| NCT02669095 | Not specified | COMPLETED | Clinical Evaluation of Approved and Investigational Contact Lenses |
| NCT02679313 | Not specified | WITHDRAWN | Effect of Lens Presentation on the Clinical Oculomotor Assessment at Near |
| NCT02680223 | Not specified | COMPLETED | Efficacy of Coloured Overlays and Lenses for Reading Difficulty |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CYCLOPENTOLATE | 4 | 1 |
| FLUORESCEIN | 4 | 1 |
| TROPICAMIDE | 4 | 1 |
| COMFILCON A | 3 | 1 |
| ETAFILCON A | 3 | 1 |
| SEPOFARSEN | 2 | 4 |
| BRINRETIGENE VESGEDPARVOVEC | 2 | 1 |
| ISOXAFLUTOLE | 2 | 1 |
| ULTEVURSEN | 2 | 1 |
| CHEMBL1457550 | 0 | 1 |
| CHEMBL177756 | 0 | 1 |
Related Atlas pages
- Cohort genes: MAGI2, SDK1, RBFOX3, ANO5, SLC44A3, TRABD2B, RDX
- Drugs: Cyclopentolate, Fluorescein, Tropicamide, Comfilcon A, Etafilcon A
- Associated genes: OPN1MW, PITX2, PITX3