Presbyopia
diseaseOn this page
Summary
Presbyopia (MONDO:0001330) is a disease with 5 GWAS associations across 16 studies and 301 clinical trials. Top therapeutic interventions include brimonidine, pilocarpine, and oxymetazoline. A subtype of eye accommodation disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 5
- Clinical trials: 301
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | presbyopia |
| Mondo ID | MONDO:0001330 |
| MeSH | D011305 |
| DOID | DOID:11638 |
| ICD-10-CM | H52.4 |
| ICD-11 | 22794400 |
| SNOMED CT | 41256004 |
| UMLS | C0033075 |
| MedGen | 10912 |
| Is cancer (heuristic) | no |
Data availability: 5 GWAS associations (16 studies).
Disease family
This is a subtype of eye accommodation disease. 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 › eye accommodation disease › presbyopia
Related subtypes (3): total internal ophthalmoplegia, accommodative spasm, cycloplegia
Genetics & variants
GWAS landscape
5 GWAS associations across 16 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr16:53798622 | 3e-14 | G | 0.04 | |
| rs7903146 | 7e-14 | TCF7L2 | C | 0.04 |
| rs34872471 | 1e-12 | TCF7L2 | T | 0.03 |
| rs11642015 | 6e-12 | FTO | C | 0.03 |
| rs16949184 | 1e-08 | MEGF11 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475881 | Verma A | 2024 | 211,535 | 178,718 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477687 | Verma A | 2024 | 62,465 | 40,900 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480075 | Verma A | 2024 | 62,465 | 40,900 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079366 | Backman JD | 2021 | 49,647 | 5,658 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083352 | Backman JD | 2021 | 49,647 | 5,658 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90044328 | Jiang L | 2021 | 39,080 | 416,574 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90044169 | Jiang L | 2021 | 34,767 | 4,313 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90477685 | Verma A | 2024 | 24,801 | 26,786 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079364 | Backman JD | 2021 | 3,113 | 52,192 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083350 | Backman JD | 2021 | 3,113 | 52,192 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
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) | 4 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 4 |
| unknown | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr16:53798622 | 0.436 | 3e-14 | Tier 4: intronic/intergenic | |||||
| rs7903146 | 10 | 112998590 | C>G,T | 0.289 | intron_variant | TCF7L2 | 7e-14 | Tier 4: intronic/intergenic |
| rs34872471 | 10 | 112994312 | T>C | 0.293 | intron_variant | TCF7L2 | 1e-12 | Tier 4: intronic/intergenic |
| rs11642015 | 16 | 53768582 | C>G,T | 0.33 | intron_variant | FTO | 6e-12 | Tier 4: intronic/intergenic |
| rs16949184 | 15 | 65970197 | G>A,T | intron_variant | MEGF11 | 1e-08 | 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
Drugs indicated for this disease
0 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Cilmostim | Phase 3 (in late-stage trials) |
| Phentolamine | Phase 3 (in late-stage trials) |
| Pilocarpine | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aceclidine, Tropicamide.
Clinical trials & evidence
Clinical trials
Clinical trials: 301.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 235 |
| PHASE3 | 29 |
| PHASE2 | 18 |
| PHASE4 | 11 |
| PHASE1 | 5 |
| PHASE1/PHASE2 | 2 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07113210 | PHASE4 | RECRUITING | Quality of Life in Presbyopic Patients Who Are Treated With Qlosi |
| NCT01387360 | PHASE4 | COMPLETED | Presbyopic Supracor Treatment for Near Myopic/Hyperopic Pseudophakic Eyes |
| NCT01977807 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK |
| NCT02112968 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia |
| NCT03101501 | PHASE4 | TERMINATED | A Prospective Study To Evaluate The Raindrop Near Vision Inlay In Presybopic or Pseudophakic Patients Treated With Mitomycin C Following Femtosecond Flap Creation. |
| NCT03126877 | PHASE4 | UNKNOWN | A Prospective Study to Evaluate the Raindrop Near Vision Inlay in Presbyopic Patients With Treatments to Optimize the Ocular Surface Before Implantation |
| NCT03242317 | PHASE4 | UNKNOWN | A Prospective Study to Evaluate the Raindrop Near Vision Inlay With Mitomycin C |
| NCT03376412 | PHASE4 | UNKNOWN | A Study to Evaluate the Raindrop Near Vision Inlay Under Flap or Within Pocket |
| NCT04208750 | PHASE4 | COMPLETED | Clinical Investigation of the Vision-R800 Device. |
| NCT05624320 | PHASE4 | WITHDRAWN | Using AGN-190584 in Subjects Utilizing Single -Use Daily, Contact Lenses |
| NCT07151612 | PHASE4 | COMPLETED | The Development of New Functions of Esculin and Digitalis Glycosides Eye Drops: A Study on the Treatment of Presbyopia |
| NCT06451666 | PHASE3 | NOT_YET_RECRUITING | Safety and Efficacy Study of Pilocarpine HCl Ophthalmic Solution in Participants With Presbyopia |
| NCT06487897 | PHASE3 | RECRUITING | Phase III Presbyopia Correction Using the VIS Opti-K™ System |
| NCT00585026 | PHASE3 | TERMINATED | Randomized Clinical Trial of Bifocal Lenses Versus Computer-specific Progressive Addition Lenses |
| NCT00910403 | PHASE3 | COMPLETED | Multicenter Evaluation of Safety and Effectiveness of Presbyopic LASIK for Hyperopes |
| NCT00928122 | PHASE3 | UNKNOWN | Intrastromal Correction of Ametropia by a Femtosecond Laser |
| NCT01025050 | PHASE3 | COMPLETED | Intrastromal Presbyopia Correction by Means of a Femtosecond Laser |
| NCT01322919 | PHASE3 | COMPLETED | Safety and Efficacy Study to Evaluate the Treatment of Both Near and Distance Vision in a Simultaneous Laser Procedure |
| NCT01404884 | PHASE3 | UNKNOWN | SUPRACOR for Myopia and Myopic Astigmatism |
| NCT02110472 | PHASE3 | UNKNOWN | Investigation of the Presbia Flexivue Microlens™ |
| NCT02487160 | PHASE3 | COMPLETED | Clinical Evaluation of the Lenstec SBL-3 Multifocal Intraocular Lens |
| NCT02668523 | PHASE3 | UNKNOWN | A Clinical Trial to Evaluate a Corneal Inlay for the Improvement of Near and Intermediate Vision in Pseudophakic Presbyopic Subjects |
| NCT03804268 | PHASE3 | COMPLETED | Efficacy Study of Pilocarpine HCl Ophthalmic Solution (AGN-190584) in Participants With Presbyopia |
| NCT03857542 | PHASE3 | COMPLETED | A Phase 3 Efficacy Study of Pilocarpine HCl Ophthalmic Solution (AGN-190584) in Participants With Presbyopia |
| NCT04599933 | PHASE3 | COMPLETED | An Evaluation of the Efficacy and Safety of CSF-1 in the Temporary Correction of Presbyopia (NEAR-1) |
| NCT04599972 | PHASE3 | COMPLETED | An Evaluation of the Efficacy and Safety of CSF-1 in the Temporary Correction of Presbyopia (NEAR-2) |
| NCT04657172 | PHASE3 | COMPLETED | Safety & Efficacy of Pilocarpine Eye Solutions for Temporary Improvement of Near Vision in Presbyopic Adults |
| NCT04837482 | PHASE3 | COMPLETED | A Study to Assess the Impact and Adverse Events of Topical Eyedrops of AGN-190584 on Night-driving Performance in Participants, 40 to 55 Years of Age |
| NCT04983589 | PHASE3 | COMPLETED | A Study to Assess Safety and Efficacy in Participants Age 40 to 55 With Presbyopia (Old Eye) Who Receive AGN-190584 in Both Eyes Twice Daily |
| NCT05114486 | PHASE3 | COMPLETED | Safety & Efficacy of Pilocarpine Ophthalmic Spray for Temporary Improvement of Near Vision in Presbyopic Adults |
| NCT05135286 | PHASE3 | COMPLETED | Safety and Efficacy Study of BRIMOCHOL™ PF and Carbachol PF in Subjects With Emmetropic Phakic and Pseudophakic Presbyopia |
| NCT05270863 | PHASE3 | COMPLETED | Safety and Efficacy Study BRIMOCHOL™ PF and Carbachol PF in Subjects With Emmetropic Phakic or Pseudophakic Presbyopia |
| NCT05393895 | PHASE3 | COMPLETED | An Evaluation of the Safety of CSF-1 in Presbyopic Subjects |
| NCT05578001 | PHASE3 | UNKNOWN | Efficacy of Pilocarpine 1% in Presbyopia |
| NCT05646719 | PHASE3 | COMPLETED | Safety and Efficacy of Nyxol Eye Drops as a Single Agent and With Adjunctive Low-Dose Pilocarpine Eye Drops in Subjects With Presbyopia |
| NCT05656027 | PHASE3 | COMPLETED | Phase 3 Evaluation of the Safety and Efficacy of LNZ100 & LNZ101 for the Treatment of Presbyopia |
| NCT05728944 | PHASE3 | COMPLETED | Phase 3 Efficacy Study of LNZ100 & LNZ101 for the Treatment of Presbyopia |
| NCT05753189 | PHASE3 | COMPLETED | Phase 3 Safety Study of LNZ100 and LNZ101 for the Treatment of Presbyopia Subjects |
| NCT06045299 | PHASE3 | COMPLETED | Evaluation of the Efficacy and Safety of LNZ101 and LNZ100 for the Presbyopia |
| NCT06542497 | PHASE3 | COMPLETED | Evaluate Efficacy and Safety of POS to Improve Distance-corrected Near Visual in Participants With Presbyopia |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BRIMONIDINE | 4 | 21 |
| PILOCARPINE | 4 | 11 |
| OXYMETAZOLINE | 4 | 9 |
| CARBAMOYLCHOLINE | 4 | 3 |
| MITOMYCIN | 4 | 3 |
| BROMFENAC | 4 | 1 |
| HYALURONIC ACID | 4 | 1 |
| ACECLIDINE | 3 | 8 |
| ETAFILCON A | 3 | 5 |
| LOTRAFILCON B | 3 | 5 |
| CILMOSTIM | 3 | 4 |
| SENOFILCON A | 3 | 4 |
| COMFILCON A | 3 | 1 |
| NELFILCON A | 3 | 1 |
| ARLIPOIC ACID CHOLINE ESTER CHLORIDE | 2 | 1 |
| BALAFILCON A | 1 | 2 |
| CHEMBL4071382 | 0 | 3 |
| CHEMBL5175144 | 0 | 3 |
| CHEMBL5567639 | 0 | 1 |
| ESCULIN | 0 | 1 |
| NESOFILCON A | -1 | 1 |
| OMAFILCON B | -1 | 1 |
| SAMFILCON A | -1 | 1 |