MCID: EYD002
MIFTS: 58

Eye Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Eye Disease

MalaCards integrated aliases for Eye Disease:

Name: Eye Disease 12 15 17
Eye Diseases 54 42 15
Abnormality of the Eye 29 6

Classifications:



External Ids:

Disease Ontology 12 DOID:5614
ICD9CM 34 379.90
MeSH 43 D005128
NCIt 49 C26767
SNOMED-CT 67 371405004
ICD10 32 H44
UMLS 71 C0015397

Summaries for Eye Disease

MedlinePlus : 42 Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include Refractive errors Cataracts - clouded lenses Optic nerve disorders, including glaucoma Retinal disorders - problems with the nerve layer at the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems Conjunctivitis - an infection also known as pinkeye Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute

MalaCards based summary : Eye Disease, also known as eye diseases, is related to macular degeneration, age-related, 1 and retinitis pigmentosa. An important gene associated with Eye Disease is CNGB3 (Cyclic Nucleotide Gated Channel Subunit Beta 3), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. The drugs Propylthiouracil and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and testes, and related phenotypes are cardiovascular system and nervous system

Disease Ontology : 12 An eye and adnexa disease that is located in the eye.

Related Diseases for Eye Disease

Diseases related to Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 774)
# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 34.5 VEGFA TNF RDH12 IMPG2 HTRA1 ERCC6
2 retinitis pigmentosa 34.0 VPS13B VEGFA TNF RDH12 NPHP1 IMPG2
3 retinal disease 34.0 RDH12 IMPG2 CNGB3 CNGA3 CFH CFB
4 corneal disease 33.2 VEGFA TNF LCAT ERCC6
5 retinoschisis 1, x-linked, juvenile 33.1 CNGB3 CNGA3 CACNA1F ABCA4
6 senior-loken syndrome 1 32.7 RDH12 NPHP1 ABCA4
7 yemenite deaf-blind hypopigmentation syndrome 32.6 VEGFA CFH ABCA4
8 macular degeneration, age-related, 6 32.5 CFH CFB ABCA4
9 macular degeneration, age-related, 4 32.5 CFH CFB ABCA4
10 lens disease 32.4 VEGFA TNF ERCC6
11 leber congenital amaurosis 1 32.3 RDH12 CNGB3 CNGA3
12 cogan syndrome 32.2 NPHP1 CACNA1F
13 macular degeneration, age-related, 14 32.1 CFB C2
14 pathologic nystagmus 31.8 RDH12 CNGB3 CNGA3 CACNA1F ABCA4
15 leber plus disease 31.7 RDH12 NPHP1 IMPG2 CNGB3 CNGA3 CACNA1F
16 kuhnt-junius degeneration 31.7 VEGFA HTRA1 CFH CFB ARMS2
17 congenital stationary night blindness 31.6 RDH12 CNGB3 CNGA3 CACNA1F ABCA4
18 pigmented paravenous chorioretinal atrophy 31.5 RDH12 ABCA4
19 chronic kidney disease 31.5 VEGFA TNF NPHP1 LCAT CFH
20 stargardt disease 31.4 RDH12 IMPG2 CNGB3 CNGA3 CFH ARMS2
21 color blindness 31.3 CNGB3 CNGA3 ABCA4
22 cone-rod dystrophy 2 31.1 TNF RDH12 CNGB3 CNGA3 CACNA1F ABCA4
23 angioid streaks 31.1 VEGFA CFH ARMS2 ABCC6
24 achromatopsia 31.1 RDH12 CNGB3 CNGA3 CACNA1F ABCA4
25 scotoma 31.0 VEGFA CNGB3 CNGA3 ABCA4
26 hemolytic anemia 30.9 TNF LCAT CFH CFB C3
27 lyme disease 30.9 TNF CFH C3
28 hemolytic-uremic syndrome 30.9 CFH CFB C3 C2
29 membranoproliferative glomerulonephritis 30.9 LCAT CFH CFB C3
30 choroideremia 30.9 CNGB3 CNGA3 ABCA4
31 end stage renal disease 30.8 VEGFA TNF CFH C3
32 pseudoxanthoma elasticum 30.8 VEGFA CFH ABCC6 ABCA4
33 cone-rod dystrophy 3 30.8 ERCC6 CACNA1F ABCA4
34 solar retinopathy 30.7 RDH12 IMPG2 ABCA4
35 peripheral vascular disease 30.7 VEGFA LCAT ERCC6
36 achromatopsia 3 30.7 CNGB3 CNGA3 CACNA1F
37 fundus albipunctatus 30.6 RDH12 CACNA1F ABCA4
38 central serous chorioretinopathy 30.6 CFH ARMS2
39 diarrhea 30.6 TNF CFH CFB C3
40 degenerative myopia 30.6 VEGFA ARMS2
41 cone dystrophy 30.6 CNGB3 CNGA3 ABCA4
42 eales disease 30.4 VEGFA TNF
43 fish-eye disease 12.6
44 aland island eye disease 12.6
45 bornholm eye disease 12.5
46 rare genetic eye disease 12.1
47 visual impairment and progressive phthisis bulbi 11.7
48 fundus dystrophy 11.6 VPS13B VEGFA RDH12 NPHP1 IMPG2 HTRA1
49 degeneration of macula and posterior pole 11.4 VEGFA HTRA1 ERCC6 CFH CFB C3
50 eye degenerative disease 11.4 VEGFA RDH12 ERCC6 CNGB3 CNGA3 CFH

Graphical network of the top 20 diseases related to Eye Disease:



Diseases related to Eye Disease

Symptoms & Phenotypes for Eye Disease

MGI Mouse Phenotypes related to Eye Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ABCA4 ABCC6 C3 CFB CFH CNGA3
2 nervous system MP:0003631 10 ABCA4 C3 CACNA1F CFH CNGA3 CNGB3
3 renal/urinary system MP:0005367 9.7 ABCC6 C3 CFB CFH LCAT NPHP1
4 skeleton MP:0005390 9.61 ABCA4 C3 CACNA1F CFB ERCC6 HTRA1
5 vision/eye MP:0005391 9.47 ABCA4 ABCC6 C3 CACNA1F CFH CNGA3

Drugs & Therapeutics for Eye Disease

Drugs for Eye Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 395)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
2
Fluorouracil Approved Phase 4 51-21-8 3385
3
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
4
Azithromycin Approved Phase 4 83905-01-5 447043 55185
5
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
6
Ethanol Approved Phase 4 64-17-5 702
7
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
8
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
9
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
10
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
11
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
12
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
13
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
14
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
15
Glycerol Approved, Investigational Phase 4 56-81-5 753
16
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
17
Methimazole Approved Phase 4 60-56-0 1349907
18
Sulfacetamide Approved Phase 4 144-80-9 5320
19
Dipivefrin Approved Phase 4 52365-63-6 3105
20
Menthol Approved Phase 4 2216-51-5 16666
21
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
22
Propranolol Approved, Investigational Phase 4 525-66-6 4946
23
Povidone Approved Phase 4 9003-39-8
24
Sorbitol Approved Phase 4 50-70-4 5780
25
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
26
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
29
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
30
Levoleucovorin Approved, Investigational Phase 4 68538-85-2
31
Spiramycin Approved Phase 4 24916-50-5
32
Sulfadiazine Approved, Investigational, Vet_approved Phase 4 68-35-9 5215
33
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
34
Verteporfin Approved, Investigational Phase 4 129497-78-5
35
Eplerenone Approved Phase 4 107724-20-9 150310 443872
36
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
37
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
38
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
39
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
40
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
41 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
42
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
43
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
44
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
45
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
46
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
47 Calciferol Phase 4
48
Echothiophate Iodide Phase 4 6736-03-4 10547
49 Cholinesterase Inhibitors Phase 4
50 Cyclooxygenase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 893)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Prospective, Open-label, Multicentre, Single Arm, 3-month Proof of Concept Study to Assess the Effect of IKERVIS® Eye Drops Administered Once Daily on the Quality of Vision in Dry Eye Disease (DED) Patients With Severe Keratitis Unknown status NCT03237936 Phase 4 1mg/mL ciclosporin
2 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
3 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
4 An Open Label Comparing the Short Term Efficacy of Lacrisert Unknown status NCT03079271 Phase 4 Lacrisert, 5 Mg Ophthalmic Insert
5 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
6 Eight Week Feasibility Study Enrolling Dry Eye Subjects Confirmed by Four of Seven Dianostic Markers Responding to Nutritional Therapy Unknown status NCT01561040 Phase 4
7 Effect of Intense Pulse Light (IPL) Treatment on Tear Film Osmolarity in Dry Eye Disease (DED) With Meibomian Gland Dysfunction (MGD). Unknown status NCT02992535 Phase 4
8 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
9 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4 cyclosporine and sodium carboximethycellulose;sodium carboximethycellulose
10 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
11 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
12 Echothiophate Iodide for the Prevention of Progression of Myopia Unknown status NCT02544529 Phase 4 Echothiophate Iodide 0.03% Ophthalmic Solution;Carboxymethylcellulose Sodium (0.5%)
13 Management of Recurrent Pterygium to Prevent Visual Impairment Unknown status NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
14 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
15 Bromfenac 0.09% vs. Ketorolac 0.4% During the Induction Phase of Treatment With Topical Cyclosporine for Chronic Dry Eye Patients Completed NCT00520260 Phase 4 bromfenac;ketorolac
16 A Four Week Study of Azithromycin Ophthalmic Solution, 1% Versus Placebo in Subjects With Dry Eye Disease Completed NCT01014078 Phase 4 Azithromycin Ophthalmic Solution, 1%;Placebo
17 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
18 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
19 A Prospective, Multicenter, Randomized Controlled Study of the Effect of Lotepredol Etabonate on The Initiation of Dry Eye Treatment With Topical Cyclosporine Completed NCT00407043 Phase 4 Lotemax;Restasis
20 An 8 Week, Single Masked, Parallel-Group, Exploratory Study Comparing Ocular Surface Signs and Symptoms in Monotherapy Ocular Hypertension or Glaucoma Patients Randomized to Either Xalatan® or Travatan Z® Completed NCT00799682 Phase 4 Xalatan;Travatan Z
21 Prostaglandin F2-alpha Eye Drops (Bimatoprost) in Thyroid Eye Disease: a Randomised Controlled Double Blind Crossover Trial Completed NCT02059655 Phase 4 Bimatoprost;Eye drop solution
22 Clinical Efficacy of Topical Hydrocortisone 0.335% (Softacort®) in Patients With Chronic Dry Eye Disease and Associated Ocular Surface Inflammation Completed NCT03907865 Phase 4 Softacort
23 The Utility of in Vivo Confocal Microscopy (IVCM) to Assess Cellular Response and Efficacy of Long-term Topical Steroid Treatment in Patients With Dry Eye Disease (DED) Completed NCT02120079 Phase 4 Lotemax;Soothe Tired Eyes Lubricant Eye Drop (Artificial Tears)
24 A Prospective, Unmasked, Randomized Evaluation of the iStent Versus Two Ocular Hypotensive Agents in Patients With Primary Open-Angle Glaucoma Completed NCT00913029 Phase 4 latanoprost/timolol
25 Change in Optic Nerve Head Blood Flow,Optic Nerve Topography and Diurnal Fluctuation of Intraocular Pressure and Pulsatile Ocular Blood Flow in Glaucoma:Cosopt and Xalatan vs Xalatan Alone Completed NCT00957190 Phase 4 Dorzolamide 20 mg and Timolol 5 mg
26 A Comparison of Optive in Patients Previously Using Systane for the Treatment of Dry Eye Completed NCT00399230 Phase 4 Optive
27 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
28 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
29 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
30 Multi-Center Study Comparing Efficacy and Tolerability of TRAVATAN® BAK-free (0.004% Travoprost) in Patients Previously on Latanoprost Ophthalmic Solution 0.005% Monotherapy Completed NCT01510145 Phase 4 Travoprost 0.004% BAK-free
31 A Double-masked, Methylprednisolone-control, Efficacy and Safety Study of 99Tc-MDP for Thyroid Associated Ophthalmopathy. Completed NCT03948191 Phase 4 Methylprednisolone;99Tc-MDP(99Technetium-Methylenediphosphonate Injection)
32 Evaluation of Maintaining Visual Performance Of Subjects Who Engage in Electronic Visual Tasking While Using Restasis (EMPOWER) Completed NCT02554981 Phase 4 Cyclosporine 0.05% Ophthalmic Emulsion
33 Investigation of Maintaining Visual Performance Achieved With Cyclosporine Therapy Completed NCT02121847 Phase 4 cyclosporine 0.05% ophthalmic emulsion;carboxymethylcellulose-based lubricant eye drops
34 Effect of High-Dose Prednisolone (Solu Dacortin®) Treatment on Choroidal and Optic Nerve Head Blood Flow in Humans Completed NCT00312325 Phase 4 Prednisolone
35 Safety and Efficacy of Lifitegrast 5% Ophthalmic Solution in Contact Lens Discomfort Completed NCT03686878 Phase 4 Lifitegrast
36 Evaluation of Tear Osmolarity Over Time With Sustained Use of Thera Tears Lubricating Completed NCT02758327 Phase 4 TheraTears Lubricating Eye Drops
37 An Open-label, Prospective, Multicentre, Uncontrolled, Proof of Concept Study Assessing the Efficacy of Lucentis (Ranibizumab) Administered by an Individualized "Treat and Extend" Dosing Regimen in Patients With Visual Impairment Due to Diabetic Macular Edema Completed NCT01297569 Phase 4 Ranibizumab
38 Study to Compare the Efficacy and Safety of Two Non-Preserved Artificial Tears for the Treatment of Dry Eye Signs and Symptoms Completed NCT00938704 Phase 4 carboxymethylcellulose 0.5% +glycerin 0.9%;sodium hyaluronate 0.18%
39 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
40 Prospective, Randomized Clinical Trial of Meibomian Gland Probing Versus Sham Procedure for Refractory Meibomian Gland Dysfunction Completed NCT02256969 Phase 4 Blephamide;GenTeal PM Night-Time
41 An Open-Label, Single-Center Study to Evaluate Symptom Response and Tear Film Cooling Dynamics of Normal and Dry Eye Patients Secondary to Application of a Menthol-Containing Eyedrop (Rohto® Hydra) Completed NCT02985827 Phase 4 Rohto (r) Hydra;Systane (r) Ultra
42 Influence of Lachrymal Substitute Gels on Tear Film Thickness in Patients With Moderate to Severe Dry Eye Syndrome Completed NCT02585453 Phase 4
43 A 12 Months, Prospective, Multicenter, Open-label, Single Arm Interventional Study Assessing the Safety and Tolerability of 0.5 mg Ranibizumab in Mono/Bilateral Wet AMD Patients in Eyes With (Best-Corrected Distance Visual Acuity) BCVA Below 2/10 and/or Second Affected Eye Completed NCT01986907 Phase 4 ranibizumab
44 Lipids of the Human Tear Film and Their Effect on Tear Stability Completed NCT00803452 Phase 4 doxycycline;azithromycin
45 Influence of Lachrymal Substitutes on Tear Film Thickness in Patients With Moderate Dry Eye Syndrome Completed NCT01864330 Phase 4
46 12-Month Stability of Diurnal IOP Control on Cosopt Completed NCT00379834 Phase 4 Cosopt
47 Influence of Three Different Formulations of Lachrymal Substitutes on Tear Film Thickness and Other Signs and Symptoms in Patients With Moderate to Severe Dry Eye Syndrome Completed NCT02986750 Phase 4
48 Clinical Trial of Interventions for Visual Loss in Nursing Home Residents Completed NCT00348621 Phase 4
49 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
50 Eliminating Trachoma With Repeat Mass Drug Treatment Completed NCT00322972 Phase 4 Mass treatment with oral azithromycin to an entire community

Search NIH Clinical Center for Eye Disease

Genetic Tests for Eye Disease

Genetic tests related to Eye Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Eye 29

Anatomical Context for Eye Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Eye Disease:

19
Eye

MalaCards organs/tissues related to Eye Disease:

40
Eye, Thyroid, Testes, Retina, Endothelial, Bone, T Cells

Publications for Eye Disease

Articles related to Eye Disease:

(show top 50) (show all 11206)
# Title Authors PMID Year
1
Recommendations for eye care during the alarm state by the coronavirus disease pandemic COVID-19. 42 61
32409243 2020
2
COVID-19 and the eye: how much do we really know? A best evidence review. 42
32490972 2020
3
Efficacy and safety of Chinese medicines for vitreous hemorrhage: A protocol for systematic review and meta-analysis. 42
32384479 2020
4
Co-delivery of brinzolamide and miRNA-124 by biodegradable nanoparticles as a strategy for glaucoma therapy. 61
32133894 2020
5
Diabetic Retinopathy Analysis-Effects of Nanoparticle-Based Triamcinolone. 61
32384959 2020
6
Eye involvement in primary central nervous system lymphoma. 61
32057762 2020
7
Early experience with teprotumumab for chronic thyroid eye disease. 61
32462101 2020
8
Mixed polar-nonpolar lipid films as minimalistic models of Tear Film Lipid Layer: A Langmuir trough and fluorescence microscopy study. 61
32243884 2020
9
Periorbital myxedema treated with intralesional hyaluronidase. 61
32490285 2020
10
Lycium barbarum polysaccharides protects retinal ganglion cells against oxidative stress injury. 61
31997818 2020
11
A Review of Capture-recapture Methods and Its Possibilities in Ophthalmology and Vision Sciences. 61
32363970 2020
12
Pericyte Bridges in Homeostasis and Hyperglycemia. 61
32321760 2020
13
Heat-shock-induced tyrosinase gene ablation with CRISPR in zebrafish. 61
32367255 2020
14
High resolution three-dimensional imaging of the ocular surface and intact eyeball using tissue clearing and light sheet microscopy. 61
32417103 2020
15
Re: Goldberg et al.: A phase 3, randomized, double-masked study of OTX-101 ophthalmic solution 0.09% in the treatment of dry eye disease (Ophthalmology. 2019;126:1230-1237). 61
32564819 2020
16
Infrared meibography allows detection of dimensional changes in meibomian glands following intranasal neurostimulation. 61
32200004 2020
17
Histopathology and selective biomarker expression in human meibomian glands. 61
31585964 2020
18
Comparison of two intense pulsed light patterns for treating patients with meibomian gland dysfunction. 61
32200506 2020
19
Short-Term Impact of FS-LASIK and SMILE on Dry Eye Metrics and Corneal Nerve Morphology. 61
32243424 2020
20
Can Cordyceps cicadae be used as an alternative to Cordyceps militaris and Cordyceps sinensis? - A review. 61
32305637 2020
21
Poly(2-hydroxyethyl methacrylate)/β-cyclodextrin-hyaluronan contact lens with tear protein adsorption resistance and sustained drug delivery for ophthalmic diseases. 61
32339710 2020
22
Aged Mice Exhibit Severe Exacerbations of Dry Eye Disease with an Amplified Memory Th17 Cell Response. 61
32289288 2020
23
Study on the potential effective ingredients of Xiaosheng prescription for dry eye disease. 61
32428832 2020
24
Pigment Epithelium-derived Factor secreted by corneal epithelial cells regulates dendritic cell maturation in dry eye disease. 61
32387568 2020
25
Tear inflammatory cytokines and ocular surface changes in patients with active thyroid eye disease treated with high-dose intravenous glucocorticoids. 61
31927748 2020
26
Health Risks Associated with Long-Term Finasteride and Dutasteride Use: It's Time to Sound the Alarm. 61
32202088 2020
27
Systemic risk factors of dry eye disease subtypes: A New Zealand cross-sectional study. 61
32311433 2020
28
Oculoplastic considerations for refractive procedures. 61
32487809 2020
29
Diabetic Eye Disease: Advancements in Technology, Detection, and Access to Care. 61
32456756 2020
30
Epidemiology of visual impairment, sight-threatening or treatment-requiring diabetic eye disease in children and young people in the UK: findings from DECS. 61
32536608 2020
31
Diabetic Retinopathy Screening with Automated Retinal Image Analysis in a Primary Care Setting Improves Adherence to Ophthalmic Care. 61
32562885 2020
32
Controlled, double-blind, randomized trial to assess the efficacy and safety of hydroxychloroquine chemoprophylaxis in SARS CoV2 infection in healthcare personnel in the hospital setting: A structured summary of a study protocol for a randomised controlled trial. 61
32493494 2020
33
The effectiveness and safety of acupuncture for patients with myopia: A protocol for a systematic review and meta-analysis. 61
32501987 2020
34
A novel telemedicine technique for evaluation of ocular exam findings via smartphone images. 61
32506998 2020
35
ATP antagonizes the crowding-induced destabilization of the human eye-lens protein γS-crystallin. 61
32307080 2020
36
Punicalagin Protects Human Retinal Pigment Epithelium Cells from Ultraviolet Radiation-Induced Oxidative Damage by Activating Nrf2/HO-1 Signaling Pathway and Reducing Apoptosis. 61
32498245 2020
37
Profile of retinal nerve fibre layer symmetry in a multiethnic Asian population: the Singapore Epidemiology of Eye Diseases study. 61
31558494 2020
38
An Online Prevention Tool for Ophthalmological Disorders. 61
32570577 2020
39
All-trans-Retinaldehyde Contributes to Retinal Vascular Permeability in Ischemia Reperfusion. 61
32492112 2020
40
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. 61
32516135 2020
41
Synthesis and structure-activity relationships of thieno[2,3-d]pyrimidines as atypical protein kinase C inhibitors to control retinal vascular permeability and cytokine-induced edema. 61
32327351 2020
42
A Novelty Route for Smartphone-based Artificial Intelligence Approach to Ophthalmic Screening. 61
32520771 2020
43
Evaluation of eye movements and visual performance in patients with cataract. 61
32555224 2020
44
Enrollment in the Zoster Eye Disease Study. 61
32558726 2020
45
Health information needs regarding diabetes mellitus in China: an internet-based analysis. 61
32576159 2020
46
Comparative Analysis of Age-Related Changes in Lacrimal Glands and Meibomian Glands of a C57BL/6 Male Mouse Model. 61
32545199 2020
47
The effect of astaxanthin on inflammation in hyperosmolarity of experimental dry eye model in vitro and in vivo. 61
32531188 2020
48
Deep lateral rim-sparing orbital wall decompression in spontaneous globe subluxation associated with shallow orbits and eyelids laxity. 61
31392912 2020
49
Diagnosis and remediation of blink inefficiency. 61
32499135 2020
50
Clinical and in vivo confocal microscopic features of neuropathic corneal pain. 61
31533927 2020

Variations for Eye Disease

ClinVar genetic disease variations for Eye Disease:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IMPG2 NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter)SNV Pathogenic 437938 rs758291149 3:100963495-100963495 3:101244651-101244651
2 CNGB3 NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter)SNV Pathogenic 438042 rs200805087 8:87591452-87591452 8:86579224-86579224
3 ABCC6 NM_001171.5(ABCC6):c.4104del (p.Asp1368fs)deletion Pathogenic 433350 rs72664237 16:16248589-16248589 16:16154732-16154732
4 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341
5 VPS13B NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter)SNV Pathogenic 95840 rs140936527 8:100286501-100286501 8:99274273-99274273
6 CNGA3 NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)SNV Pathogenic 265467 rs552069173 2:99013321-99013321 2:98396858-98396858
7 VPS13B NM_017890.4(VPS13B):c.6370_6371del (p.Met2124fs)deletion Pathogenic/Likely pathogenic 242548 rs748404277 8:100712001-100712002 8:99699773-99699774
8 CNGB3 NM_019098.4(CNGB3):c.1285del (p.Ser429fs)deletion Pathogenic/Likely pathogenic 427658 rs776896038 8:87645015-87645015 8:86632787-86632787
9 ABCC6 NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met)SNV Pathogenic/Likely pathogenic 6569 rs63750459 16:16256967-16256967 16:16163110-16163110
10 GNAT2 NM_005272.4(GNAT2):c.906C>A (p.Tyr302Ter)SNV Likely pathogenic 438058 rs1553226355 1:110146135-110146135 1:109603513-109603513
11 CNGA3 NM_001298.3(CNGA3):c.107_110del (p.His36fs)deletion Likely pathogenic 438155 rs749036398 2:98994154-98994157 2:98377691-98377694
12 RBP4 NM_006744.4(RBP4):c.248+1G>ASNV Likely pathogenic 438114 rs111785373 10:95360423-95360423 10:93600666-93600666
13 TYR NM_000372.5(TYR):c.1037G>T (p.Gly346Val)SNV Likely pathogenic 437986 rs773970123 11:88960991-88960991 11:89227823-89227823
14 RPGRIP1 NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys)SNV Likely pathogenic 438161 rs565837539 14:21794020-21794020 14:21325861-21325861
15 NR2E3 NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)SNV Likely pathogenic 438227 rs772881093 15:72104165-72104165 15:71811825-71811825
16 NYX NM_022567.2(NYX):c.936C>G (p.Asn312Lys)SNV Likely pathogenic 438056 rs1555967263 X:41333642-41333642 X:41474389-41474389
17 RP2 NM_006915.3(RP2):c.43del (p.Ser15fs)deletion Likely pathogenic 437945 rs1556313474 X:46696578-46696578 X:46837143-46837143
18 CACNA1F NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter)SNV Likely pathogenic 438125 rs782362725 X:49071548-49071548 X:49215088-49215088
19 CHM NM_000390.4(CHM):c.315-1536A>GSNV Likely pathogenic 438064 rs1555955061 X:85220593-85220593 X:85965588-85965588
20 AHI1 NM_001134831.2(AHI1):c.1912+1488_2036+506deldeletion Likely pathogenic 438231 6:135759007-135762232 6:135437869-135441094
21 TRPM6 deletion Likely pathogenic 438256 9:77388717-77398576 9:74773801-74783660
22 subset of 27 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29656684-30197341)copy number gain Likely pathogenic 523255 16:29656684-30197341
23 CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs)deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781
24 CNGB3 NM_019098.4(CNGB3):c.1208G>A (p.Arg403Gln)SNV Conflicting interpretations of pathogenicity 143154 rs147876778 8:87645092-87645092 8:86632864-86632864
25 CACNA2D4 NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)SNV Uncertain significance 208566 rs200098356 12:1969369-1969369 12:1860203-1860203
26 46;XX;inv(6)(p11.1q21)dninversion Uncertain significance 268013
27 VPS13B NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr)SNV Uncertain significance 95847 rs145417421 8:100479824-100479824 8:99467596-99467596
28 AIFM3 , CRKL , LZTR1 , P2RX6 , PI4KA , SERPIND1 , SLC7A4 , SNAP29 , THAP7 GRCh37/hg19 22q11.21(chr22:21081260-21431174)copy number gain Uncertain significance 523275 22:21081260-21431174
29 TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343)copy number loss Uncertain significance 523291 8:109990022-110168343

Expression for Eye Disease

Search GEO for disease gene expression data for Eye Disease.

Pathways for Eye Disease

Pathways related to Eye Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 CFH CFB C3 C2
2
Show member pathways
11.62 CFH CFB C3 C2
3
Show member pathways
11.45 CFB C3 C2
4 11.42 CFH CFB C3 C2
5 11.38 TNF C3 C2
6 10.91 CFH CFB C3 C2

GO Terms for Eye Disease

Cellular components related to Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 VEGFA TNF LCAT IMPG2 HTRA1 CFH
2 extracellular space GO:0005615 9.61 VEGFA TNF LCAT HTRA1 CFH CFB
3 photoreceptor outer segment GO:0001750 9.43 CNGB3 CACNA1F ABCA4
4 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

Biological processes related to Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.83 CFH CFB C3 C2 BPIFA1
2 response to stimulus GO:0050896 9.8 RDH12 CNGB3 CNGA3 CACNA1F ABCC6 ABCA4
3 regulation of complement activation GO:0030449 9.56 CFH CFB C3 C2
4 photoreceptor cell maintenance GO:0045494 9.54 RDH12 ERCC6 ABCA4
5 complement activation GO:0006956 9.46 CFH CFB C3 C2
6 positive regulation of apoptotic cell clearance GO:2000427 9.4 C3 C2
7 visual perception GO:0007601 9.17 RDH12 IMPG2 CNGB3 CNGA3 CACNA1F ABCC6
8 complement activation, alternative pathway GO:0006957 9.13 CFH CFB C3

Molecular functions related to Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Eye Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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