MCID: EYD002
MIFTS: 59

Eye Disease

Categories: Eye diseases, Infectious diseases, Neuronal diseases
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Aliases & Classifications for Eye Disease

MalaCards integrated aliases for Eye Disease:

Name: Eye Disease 11 14 16 75
Eye Diseases 53 41 14
Abnormality of the Eye 28 5
Toxoplasma Oculopathy 33

Classifications:



External Ids:

Disease Ontology 11 DOID:5614
ICD9CM 34 379.90
MeSH 43 D005128
NCIt 49 C26767
SNOMED-CT 68 371409005
ICD10 31 H44
ICD11 33 836709998
UMLS 71 C0015397

Summaries for Eye Disease

MedlinePlus: 41 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 pink eye 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 blood group, globoside system and leber plus disease. An important gene associated with Eye Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. The drugs Prednisone and Propylthiouracil have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and endothelial, and related phenotypes are nervous system and pigmentation

Disease Ontology: 11 An eye and adnexa disease that is located in the eye.

Wikipedia: 75 This is a partial list of human eye diseases and... more...

Related Diseases for Eye Disease

Diseases in the Eye Disease family:

Adamtsl4-Related Eye Disorders

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

(show top 50) (show all 1001)
# Related Disease Score Top Affiliating Genes
1 blood group, globoside system 33.7 ZFYVE26 TULP1 RPE65 RDH12 RD3 LRAT
2 leber plus disease 33.7 ZFYVE26 TULP1 RPE65 RDH12 RD3 LRAT
3 macular degeneration, age-related, 1 33.6 RPE65 RDH12 LRAT IMPG2 EYS CRYAA
4 usher syndrome 33.2 TULP1 RPE65 RDH12 LRAT EYS CRB1
5 senior-loken syndrome 1 33.0 TULP1 RPE65 RDH12 EYS CRB1 ALMS1
6 retinal degeneration 33.0 ZFYVE26 TULP1 RPE65 RDH12 RD3 LRAT
7 retinal disease 32.9 RPE65 IMPG2 CRYAA CRB1 CACNA1F ABCA4
8 retinitis pigmentosa 32.8 ZFYVE26 TULP1 RPE65 RDH12 RD3 LRAT
9 enhanced s-cone syndrome 32.7 RPE65 IMPG2 EYS CRB1 CNGB3 CNGA3
10 leber congenital amaurosis 2 32.6 TULP1 RPE65 RDH12 RD3 LRAT CRB1
11 retinoschisis 1, x-linked, juvenile 32.6 RPE65 CRB1 CNGB3 CNGA3 CHM CACNA1F
12 bietti crystalline corneoretinal dystrophy 32.4 RPE65 EYS ABCA4
13 coloboma of macula 32.4 RPE65 RDH12 CRYAA CRB1
14 congenital stationary night blindness 32.3 TULP1 RPE65 RDH12 RD3 LRAT IMPG2
15 usher syndrome, type i 32.3 TULP1 RPE65 EYS ABCA4
16 cone-rod dystrophy 2 32.3 ZFYVE26 TULP1 RPE65 RDH12 RD3 LRAT
17 fundus dystrophy 32.3 ZFYVE26 TULP1 RPE65 RDH12 RD3 LRAT
18 macular degeneration, age-related, 2 32.2 IMPG2 ABCC6 ABCA4
19 eye accommodation disease 32.2 CRYAA CNGB3 CNGA3
20 lens disease 32.1 RPE65 CRYAA CRB1
21 uveal disease 32.1 RPE65 CRYAA CHM
22 refractive error 32.1 RPE65 CRYAA CRB1 CACNA1F ABCA4
23 night blindness 32.0 TULP1 RPE65 RDH12 LRAT EYS CRB1
24 pigmented paravenous chorioretinal atrophy 31.9 CRB1 ABCA4
25 retinitis 31.8 TULP1 RPE65 EYS CRB1 ABCA4
26 macular retinal edema 31.8 RPE65 CRB1 ABCA4
27 cone dystrophy 31.7 TULP1 RPE65 RDH12 LRAT IMPG2 EYS
28 keratoconus 31.6 TULP1 RPE65 RDH12 RD3 LRAT CRB1
29 pathologic nystagmus 31.5 CRYAA CNGB3 CNGA3 CACNA1F
30 color blindness 31.5 RPE65 EYS CRYAA CRB1 CNGB3 CNGA3
31 achromatopsia 31.4 TULP1 RPE65 RDH12 RD3 EYS CRYAA
32 stargardt disease 31.4 TULP1 RPE65 RDH12 LRAT IMPG2 GPHN
33 stargardt disease 1 31.3 TULP1 RDH12 GPHN EYS CRB1 CNGB3
34 choroideremia 31.3 RPE65 EYS CNGB3 CNGA3 CHM ABCA4
35 cycloplegia 31.2 CNGB3 CNGA3
36 fundus albipunctatus 31.2 TULP1 RPE65 RDH12 LRAT EYS CRB1
37 peripheral retinal degeneration 31.1 RPE65 CNGB3 CNGA3 ABCA4
38 macular holes 31.1 RPE65 CRYAA CHM ABCA4
39 leber congenital amaurosis 3 31.0 TULP1 RPE65 RDH12 RD3 LRAT CRYAA
40 bardet-biedl syndrome 31.0 TULP1 RPE65 RDH12 EYS CRB1 BBS9
41 gyrate atrophy of choroid and retina 31.0 RPE65 RDH12 CRYAA CNGB3 CNGA3 CHM
42 vitelliform macular dystrophy 31.0 RPE65 IMPG2 EYS CRB1 CNGB3 CNGA3
43 scotoma 31.0 RPE65 CNGB3 CNGA3 ABCA4
44 night blindness, congenital stationary, type 2a 31.0 CRYAA CACNA1F
45 hereditary retinal dystrophy 30.9 RPE65 EYS CRB1 ABCA4
46 congenital nystagmus 30.9 CRYAA CNGB3 CNGA3 CACNA1F
47 leber congenital amaurosis 4 30.9 TULP1 RPE65 RDH12 RD3 LRAT CRB1
48 leber hereditary optic neuropathy, modifier of 30.8 RPE65 CRYAA CNGB3 CNGA3 CHM ABCA4
49 leber congenital amaurosis 8 30.8 TULP1 RPE65 RDH12 LRAT CRB1
50 leber congenital amaurosis 9 30.8 TULP1 RPE65 RDH12 LRAT CRB1

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



Diseases related to Eye Disease

Symptoms & Phenotypes for Eye Disease

GenomeRNAi Phenotypes related to Eye Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ABCA4 ABCC6 ALMS1 BBS9 CACNA1F CHM
2 no effect GR00402-S-2 10.15 ABCA4 ALMS1 BBS9 CACNA1F CHM CNGA3

MGI Mouse Phenotypes related to Eye Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.83 ABCA4 ALMS1 CACNA1F CHM CNGA3 CNGB3
2 pigmentation MP:0001186 9.63 ABCA4 ALMS1 CHM CRB1 RPE65 TULP1
3 vision/eye MP:0005391 9.58 ABCA4 ABCC6 ALMS1 CACNA1F CHM CNGA3

Drugs & Therapeutics for Eye Disease

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

(show top 50) (show all 284)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
5
Tocopherol Approved, Investigational Phase 4 1406-66-2
6
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5
7
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078 5280363
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
11
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
12
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
13
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
14
Coal tar Approved Phase 4 8007-45-2
15
Ofloxacin Approved Phase 4 82419-36-1 4583
16
Dorzolamide Approved Phase 4 120279-96-1 5284549
17
Bevacizumab Approved, Investigational Phase 4 216974-75-3 135329020
18
Racephedrine Approved, Experimental Phase 4 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
19
Methimazole Approved Phase 4 60-56-0 1349907
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5, 15307-79-6 3033
21
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
22
Propranolol Approved, Investigational Phase 4 318-98-9, 525-66-6 62882 4946
23
Tetryzoline Approved Phase 4 84-22-0 5419
24
Chloramphenicol Approved, Vet_approved, Withdrawn Phase 4 56-75-7 298 5959
25
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
26
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
27
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
28
Hydroxychloroquine Approved Phase 4 118-42-3 3652
29
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
30
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
31
Rituximab Approved Phase 4 174722-31-7
32
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
33
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
34
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
35
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4 96919
36
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 4 59-02-9, 10191-41-0 2116 14985
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
38
Tocotrienol Investigational Phase 4 6829-55-6 9929901
39
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
40 Cathartics Phase 4
41 Castor Phase 4
42 Anti-Infective Agents Phase 4
43 Laxatives Phase 4
44 Gastrointestinal Agents Phase 4
45 Melanocyte-Stimulating Hormones Phase 4
46 Adrenocorticotropic Hormone Phase 4
47
beta-Endorphin Phase 4
48 Hormones Phase 4
49 Hormone Antagonists Phase 4
50 Anti-Inflammatory Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 608)
# Name Status NCT ID Phase Drugs
1 Short-term Supplemental Effect of Preservative-free Low-dose Hyaluronic Acid-containing Salt Solution on Dry Eye Disease - A Randomized, Parallel-group, Double-blind, Controlled Trial Unknown status NCT03888183 Phase 4 salt solution without 0.15% HA;preservative-free 0.15% HA
2 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
3 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
4 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
5 Pre-surgical Ocular Surface Treatment With Intracanalicular Dexamethasone Insert and Effect on Intraocular Lens Measurement Accuracy - The PRECISION Study Unknown status NCT04530864 Phase 4 Dextenza 0.4Mg Ophthalmic Insert
6 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
7 Using A Novel Classification System in Intravenous Glucocorticoids Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Unknown status NCT03107078 Phase 4 Glucocorticoids
8 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
9 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
10 Study Title: A Phase 4 Study to Assess the Clinical Efficacy of H.P. Acthar Gel 80 U/ml to Improve the Signs and Symptoms in Subjects With Dry Eye Disease Completed NCT03287635 Phase 4 Corticotropin 80Unit/Ml Repository Injection
11 Effect of Cequa™ in Subjects With Dry Eye Disease That Is Currently Inadequately Controlled While on Cyclosporine 0.05% Ophthalmic Emulsion Completed NCT04357795 Phase 4 CequaTM (Cyclosporine 0.09%) ophthalmic solution
12 A Phase IV, Multicenter, Randomized, Single-blinded(Evaluator), Active-controlled, Parallel Study for Evaluating HA 0.15% Compared With Cyclosporine 0.05%, and Efficacy of Combination Therapy in Moderate to Severe Dry Eye Disease Patients Completed NCT04127851 Phase 4 TJO-018 (HA 0.15%);Cyclosporine Ophthalmic Emulsion 0.05% standard therapy (CMC 0.5% add);TJO-018 (HA 0.15%) + Cyclosporine Ophthalmic Emulsion 0.05%
13 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)
14 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
15 Intracanalicular Dexamethasone Used in Conjunction With Restasis (Cyclosporine Ophthalmic Emulsion) for the Treatment of Signs and Symptoms of Dry Eye Disease as Compared to Restasis With Lotemax (Loteprednol Etabonate Ophthalmic Suspension 0.5%) and Restasis Monotherapy. Completed NCT04555694 Phase 4 Cyclosporin;Loteprednol Etabonate;Dexamethasone Ophthalmic 0.4 Mg Ophthalmic Insert
16 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
17 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
18 Intracanalicular Dexamethasone Used in Conjunction With LipiFlow for the Treatment of Meibomian Gland Dysfunction in Patients With Evaporative Dry Eye Disease and Evidence of Clinically Significant Inflammation Completed NCT04413279 Phase 4 Dexamethasone Intracanalicular Insert, 0.4mg with LipiFlow Thermal Pulsation
19 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
20 Randomized Assessor Masked Trial Comparing Manuka Honey Eye Drops to Conventional Treatment of Meibomian Gland Dysfunction Related Dry Eye Disease. Completed NCT04457648 Phase 4
21 Concentration of Ofloxacin Into the Aqueous Humour of Patients After Topical Instillation According to the Severity of Dry Eye Disease Completed NCT05213156 Phase 4 Oxatrex
22 Evaluation of the Clinical Efficacy of Hyaluronic Acid and Gingko Biloba Eyedrops in the Management of Iatrogenic Dry Eye Disease Induced by Cataract Surgery Completed NCT05002036 Phase 4
23 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
24 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
25 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
26 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
27 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
28 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
29 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
30 Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity Completed NCT03148132 Phase 4 Bevacizumab Injection;Ranibizumab Ophthalmic
31 Influence of Methylprednisolone Pulse Therapy on Liver Function in Patients With Graves' Orbitopathy Completed NCT03667157 Phase 4 every week IVMP therapy;very high doses IVMP therapy
32 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
33 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)
34 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
35 Evaluation of Lacrimal Punctal Changes by Anterior Segment Optical Coherence Tomography AS-OCT After Topical Combined Antibiotics and Steroids Treatment in Cases of Inflammatory Punctual Stenosis Completed NCT05028907 Phase 4 5 mg chloramphenicol, 1 mg dexamethasone sodium phosphate, 0.25 mg tetryzoline hydrochloride, 2 mg Hydroxypropyl Methyl Cellulose, 10 mg α-tocopherol acetate and 8 mg macrogol 400).;sodium hyaluronate, polyethylene and propylene glycol based) three times daily for three months
36 Predicting the Success of Dry Eye Disease Interventions Using Clinical Tests Recruiting NCT04125134 Phase 4 Preservative-free Refresh Optive Advanced Lubricant Eye Drops
37 Efficacy of Xiidra in the Management Dry Eye Disease After Corneal Collagen Cross Linking Recruiting NCT05045053 Phase 4 Xiidra 5% Ophthalmic Solution
38 A Randomized, Controlled, Double-masked, Investigator-initiated Trial to Evaluate Tear Film Quality and Stability in Subjects With Dry Eye Disease Using OC-01 (Varenicline Solution) Nasal Spray 0.03 mg as Compared to Vehicle Control Nasal Spray Recruiting NCT05514041 Phase 4 Varenicline solution;Placebo nasal spray (OC-01 Vehicle Nasal Spray)
39 Ikervis for Prophylaxis of Dry Eye Disease Due to Graft vs Host Disease Post Allogeneic Haemtopoietic Stem Cell Transplant Recruiting NCT04636918 Phase 4 Cyclosporine Ophthalmic
40 Prospective Evaluation of the Efficacy and Safety of Topical Hydrocortisone Treatment on Clinical Signs and Symptoms of Dry Eye Disease Associated With Moderate Meibomian Gland Dysfunction Recruiting NCT05159284 Phase 4 Hydrocortisone Ophthalmic
41 Intracanalicular Dexamethasone Insert for the Treatment of Inflammation and Discomfort in Dry Eye Disease Recruiting NCT04527887 Phase 4 Dextenza (IDI) (Sustained Release Dexamethasone), (0.4 mg)
42 A Phase 3b/4, Double-masked, Randomized, International, Parallel-assignment, Multicenter Trial in Patients With Thyroid Eye Disease to Evaluate the Safety and Tolerability of Different Dosing Durations of Teprotumumab Recruiting NCT05002998 Phase 4 Teprotumumab;Placebo
43 A 52-week, Two Arm, Randomized, Open-label, Multicenter Study Assessing the Efficacy and Safety of Two Different Brolucizumab 6 mg Dosing Regimens for Patients With Suboptimal Anatomically Controlled Neovascular Age-related Macular Degeneration Recruiting NCT04679935 Phase 4
44 A Randomized Controlled Trial on the Effect of Hydroxychloroquine in Mild Graves' Orbitopathy Recruiting NCT05126147 Phase 4 Hydroxychloroquine
45 A Phase 4, Randomized, Double-masked, Placebo-controlled, Multicenter Trial to Evaluate the Efficacy and Safety of TEPEZZA® in Treating Patients With Chronic (Inactive) Thyroid Eye Disease Active, not recruiting NCT04583735 Phase 4 Placebo
46 Comparative Efficacy of Different Treatment Regimens in Patients With Dry Eye Disease and Meibomian Gland Dysfunction Active, not recruiting NCT05594745 Phase 4 Lifitegrast Ophthalmic;Systane Free
47 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Active, not recruiting NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
48 Local Betamethasone Versus Triamcinolone Injection in Management of Thyroid-Related Upper Lid Retraction With and Without Proptosis Not yet recruiting NCT04976816 Phase 4
49 A Phase IV, Randomized, Multi-center Clinical Trial to Compare the Efficacy of Orbital Radiotherapy in Association With Intravenous Glucocorticoids vs Intravenous Glucocorticoids Alone for Moderately Severe and Active Graves' Orbitopathy Not yet recruiting NCT03098225 Phase 4 Methylprednisolone
50 Investigating iLux Efficacy in Contact Lens Wearers With Evaporative Dry Eye Disease Terminated NCT04159935 Phase 4

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 28

Anatomical Context for Eye Disease

Organs/tissues related to Eye Disease:

FMA: Eye
MalaCards : Eye, Thyroid, Endothelial, Retina, Lymph Node, Liver, Skin

Publications for Eye Disease

Articles related to Eye Disease:

(show top 50) (show all 14321)
# Title Authors PMID Year
1
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 5
24123792 2013
2
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 5
20673862 2010
3
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). 5
16098056 2005
4
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 5
15258582 2004
5
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. 5
12673275 2003
6
CNGA3 mutations in hereditary cone photoreceptor disorders. 5
11536077 2001
7
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 5
11536079 2001
8
Genetic basis of total colourblindness among the Pingelapese islanders. 5
10888875 2000
9
The impact of the first United Kingdom COVID-19 lockdown on environmental air pollution, digital display device use and ocular surface disease symptomatology amongst shielding patients. 41
36460705 2022
10
Development of eye phantom for mimicking the deformation of the human cornea accompanied by intraocular pressure alterations. 41
36450788 2022
11
Changes in mean and variance of ophthalmic disease incidences during COVID-19 pandemic in Korea. 41
36437348 2022
12
PEDF in angiogenic eye diseases. 53 62
20236057 2010
13
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 53 62
20464711 2010
14
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 53 62
20085643 2010
15
Implications of new monoclonal antibodies and the crystal structure of the TSH receptor for the treatment and management of thyroid diseases. 53 62
20477447 2008
16
Pigment epithelium-derived factor prevents melanoma growth via angiogenesis inhibition. 53 62
19128233 2008
17
Effects of sequential artificial tear and cyclosporine emulsion therapy on conjunctival goblet cell density and transforming growth factor-beta2 production. 53 62
18245969 2008
18
Positive correlation of pigment epithelium-derived factor and total antioxidant capacity in aqueous humour of patients with uveitis and proliferative diabetic retinopathy. 53 62
17389742 2007
19
L1 retrotransposition can occur early in human embryonic development. 53 62
17483097 2007
20
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. 53 62
17439325 2007
21
Pigment epithelium-derived factor (PEDF) inhibits angiotensin II-induced smooth muscle cell proliferation through its anti-oxidative properties. 53 62
17627605 2007
22
Study of serum antibodies against three eye muscle antigens and the connective tissue antigen collagen XIII in patients with Graves' disease with and without ophthalmopathy: correlation with clinical features. 53 62
17042681 2006
23
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 53 62
17081426 2006
24
High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. 53 62
16260177 2005
25
Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells. 53 62
15985268 2005
26
[Fish eye disease revealing a partial LCAT deficiency]. 53 62
15936482 2005
27
PAX6 mutations: genotype-phenotype correlations. 53 62
15918896 2005
28
Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran. 53 62
15820772 2005
29
Mutation analysis of PAX6 gene in a large Chinese family with aniridia. 53 62
15740668 2005
30
Met72Thr polymorphism of pigment epithelium-derived factor gene and susceptibility to age-related macular degeneration. 53 62
15823717 2005
31
Concentration of transforming growth factor beta2 in aqueous humor. 53 62
15637419 2005
32
Gene symbol: LCAT. Disease: Fish eye disease. 53 62
15678588 2004
33
The effect of long-term somatostatin analogue treatment on free and total insulin-like growth factor (IGF) -I, -II and IGF binding protein -1, -2 and -3 serum levels in euthyroid patients with active thyroid eye disease. 53 62
16982592 2004
34
Decrease of pigment epithelium-derived factor in aqueous humor with increasing age. 53 62
15126162 2004
35
Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo. 53 62
15039211 2004
36
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. 53 62
15123989 2004
37
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 53 62
14661078 2004
38
[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. 53 62
12886512 2003
39
Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. 53 62
12766045 2003
40
Adipose thyrotrophin receptor expression is elevated in Graves' and thyroid eye diseases ex vivo and indicates adipogenesis in progress in vivo. 53 62
12790806 2003
41
Inhibitory effects of ketotifen on eotaxin-dependent activation of eosinophils: consequences for allergic eye diseases. 53 62
12752326 2003
42
The molecular genetics of the corneal dystrophies--current status. 53 62
12700042 2003
43
Pigment epithelium-derived factor inhibits leptin-induced angiogenesis by suppressing vascular endothelial growth factor gene expression through anti-oxidative properties. 53 62
12711260 2003
44
Free and total insulin-like growth factor (IGF)-I, -II, and IGF binding protein-1, -2, and -3 serum levels in patients with active thyroid eye disease. 53 62
12519841 2003
45
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 53 62
12447720 2002
46
Demonstration of immunoglobulin G, A, and E autoantibodies to the human thyrotropin receptor using flow cytometry. 53 62
11932312 2002
47
Differential occurrence of mutations causative of eye diseases in the Chinese population. 53 62
11857735 2002
48
Loss of the antiangiogenic pigment epithelium-derived factor in patients with angiogenic eye disease. 53 62
11723044 2001
49
Quantification of MUC5AC protein in human tears. 53 62
11685069 2001
50
[LCAT (lecithin:cholesterol acyltransferase)]. 53 62
11797372 2001

Variations for Eye Disease

ClinVar genetic disease variations for Eye Disease:

5 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNGB3 NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) SNV Pathogenic
143154 rs147876778 GRCh37: 8:87645092-87645092
GRCh38: 8:86632864-86632864
2 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) DEL Pathogenic
2047 rs386834261 GRCh37: 14:68196054-68196058
GRCh38: 14:67729337-67729341
3 ABCC6 NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) DEL Pathogenic
433350 rs72664237 GRCh37: 16:16248589-16248589
GRCh38: 16:16154732-16154732
4 CNGB3 NM_019098.5(CNGB3):c.1148del (p.Thr383fs) DEL Pathogenic
5225 rs397515360 GRCh37: 8:87656009-87656009
GRCh38: 8:86643781-86643781
5 IMPG2 NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter) SNV Pathogenic
437938 rs758291149 GRCh37: 3:100963495-100963495
GRCh38: 3:101244651-101244651
6 RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV Pathogenic
13115 rs61752871 GRCh37: 1:68910541-68910541
GRCh38: 1:68444858-68444858
7 CRYAA NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) SNV Pathogenic
68459 rs397515624 GRCh37: 21:44589243-44589243
GRCh38: 21:43169133-43169133
8 ABCA4 NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) SNV Pathogenic
99211 rs61751398 GRCh37: 1:94508386-94508386
GRCh38: 1:94042830-94042830
9 RD3 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) SNV Pathogenic
189792 rs786205148 GRCh37: 1:211654646-211654646
GRCh38: 1:211481304-211481304
10 CNGA3 NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) SNV Pathogenic
497256 rs141386891 GRCh37: 2:99012912-99012912
GRCh38: 2:98396449-98396449
11 TULP1 NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) SNV Pathogenic
828151 rs201070350 GRCh37: 6:35473878-35473878
GRCh38: 6:35506101-35506101
12 BBS9 NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) SNV Pathogenic
1074830 GRCh37: 7:33407474-33407474
GRCh38: 7:33367862-33367862
13 LRAT NM_004744.5(LRAT):c.157_159dup (p.Val53dup) DUP Pathogenic
1180621 GRCh37: 4:155665633-155665634
GRCh38: 4:154744481-154744482
14 EYS NM_001142800.2(EYS):c.2023+1G>A SNV Pathogenic
1180634 GRCh37: 6:66005755-66005755
GRCh38: 6:65295862-65295862
15 ALMS1 NM_001378454.1(ALMS1):c.6711dup (p.Ser2238fs) DUP Pathogenic
1180705 GRCh37: 2:73680363-73680364
GRCh38: 2:73453236-73453237
16 ABCA4 NM_000350.3(ABCA4):c.1795_1833del (p.Glu599_Leu611del) DEL Likely Pathogenic
1180748 GRCh37: 1:94528237-94528275
GRCh38: 1:94062681-94062719
17 ARL6 NM_001278293.3(ARL6):c.349+1G>A SNV Likely Pathogenic
1180769 GRCh37: 3:97503894-97503894
GRCh38: 3:97785050-97785050
18 CRB1 NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr) SNV Likely Pathogenic
1180656 GRCh37: 1:197298029-197298029
GRCh38: 1:197328899-197328899
19 PDE6C NM_006204.4(PDE6C):c.1744A>T (p.Arg582Ter) SNV Likely Pathogenic
1180661 GRCh37: 10:95400683-95400683
GRCh38: 10:93640926-93640926
20 FYCO1 NM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter) SNV Likely Pathogenic
1180699 GRCh37: 3:46003824-46003824
GRCh38: 3:45962332-45962332
21 AIPL1 NM_014336.5(AIPL1):c.785-1G>C SNV Likely Pathogenic
1180627 GRCh37: 17:6329151-6329151
GRCh38: 17:6425831-6425831
22 BBS9 NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) DEL Likely Pathogenic
1075150 GRCh37: 7:33312775-33312775
GRCh38: 7:33273163-33273163
23 RPE65 NM_000329.3(RPE65):c.938A>C (p.His313Pro) SNV Likely Pathogenic
1180616 GRCh37: 1:68904685-68904685
GRCh38: 1:68439002-68439002
24 GPHN, RDH12, ZFYVE26 NM_152443.3(RDH12):c.759dup (p.Phe254fs) DUP Likely Pathogenic
977814 rs1594867516 GRCh37: 14:68196003-68196004
GRCh38: 14:67729286-67729287
25 RLBP1 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) DEL Likely Pathogenic
191289 rs786205626 GRCh37: 15:89760400-89760411
GRCh38: 15:89217169-89217180
26 ABCA4 NM_000350.3(ABCA4):c.1A>G (p.Met1Val) SNV Likely Pathogenic
99110 rs201738997 GRCh37: 1:94586601-94586601
GRCh38: 1:94121045-94121045
27 GNAT2 NM_001377295.2(GNAT2):c.906C>A (p.Tyr302Ter) SNV Likely Pathogenic
438058 rs1553226355 GRCh37: 1:110146135-110146135
GRCh38: 1:109603513-109603513
28 CACNA2D4 NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) SNV Likely Pathogenic
208566 rs200098356 GRCh37: 12:1969369-1969369
GRCh38: 12:1860203-1860203
29 ABCC6 NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) SNV Likely Pathogenic
6569 rs63750459 GRCh37: 16:16256967-16256967
GRCh38: 16:16163110-16163110
30 CNGA3 NM_001298.3(CNGA3):c.107_110del (p.His36fs) DEL Likely Pathogenic
438155 rs749036398 GRCh37: 2:98994154-98994157
GRCh38: 2:98377691-98377694
31 overlap with 27 genes GRCh37/hg19 16p11.2(chr16:29656684-30197341) CN GAIN Likely Pathogenic
523255 GRCh37: 16:29656684-30197341
GRCh38:
32 RPGRIP1 NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) SNV Likely Pathogenic
438161 rs565837539 GRCh37: 14:21794020-21794020
GRCh38: 14:21325861-21325861
33 AHI1 NM_001134831.2(AHI1):c.1912+1488_2036+506del DEL Likely Pathogenic
438231 GRCh37: 6:135759007-135762232
GRCh38: 6:135437869-135441094
34 CHM NM_000390.4(CHM):c.315-1536A>G SNV Likely Pathogenic
438064 rs1555955061 GRCh37: X:85220593-85220593
GRCh38: X:85965588-85965588
35 CACNA1F NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter) SNV Likely Pathogenic
438125 rs782362725 GRCh37: X:49071548-49071548
GRCh38: X:49215088-49215088
36 TRPM6 NM_017662.5(TRPM6):c.2920-806_3404-1965del DEL Likely Pathogenic
438256 GRCh37: 9:77388716-77398575
GRCh38: 9:74773800-74783659
37 CNGA3 NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) SNV Likely Pathogenic
265467 rs552069173 GRCh37: 2:99013321-99013321
GRCh38: 2:98396858-98396858
38 CNGB3 NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) SNV Likely Pathogenic
438042 rs200805087 GRCh37: 8:87591452-87591452
GRCh38: 8:86579224-86579224
39 TYR NM_000372.5(TYR):c.1037G>T (p.Gly346Val) SNV Likely Pathogenic
437986 rs773970123 GRCh37: 11:88960991-88960991
GRCh38: 11:89227823-89227823
40 CNGB3 NM_019098.5(CNGB3):c.1285del (p.Ser429fs) DEL Likely Pathogenic
427658 rs776896038 GRCh37: 8:87645015-87645015
GRCh38: 8:86632787-86632787
41 RP2 NM_006915.3(RP2):c.43del (p.Ser15fs) DEL Likely Pathogenic
437945 rs1556313474 GRCh37: X:46696578-46696578
GRCh38: X:46837143-46837143
42 NR2E3 NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) SNV Likely Pathogenic
438227 rs772881093 GRCh37: 15:72104165-72104165
GRCh38: 15:71811825-71811825
43 NYX NM_001378477.3(NYX):c.921C>G (p.Asn307Lys) SNV Likely Pathogenic
438056 rs1555967263 GRCh37: X:41333642-41333642
GRCh38: X:41474389-41474389
44 RBP4 NM_006744.4(RBP4):c.248+1G>A SNV Likely Pathogenic
438114 rs111785373 GRCh37: 10:95360423-95360423
GRCh38: 10:93600666-93600666
45 VPS13B NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) DEL Uncertain Significance
242548 rs748404277 GRCh37: 8:100712001-100712002
GRCh38: 8:99699773-99699774
46 VPS13B NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) SNV Uncertain Significance
95847 rs145417421 GRCh37: 8:100479824-100479824
GRCh38: 8:99467596-99467596
47 overlap with 9 genes GRCh37/hg19 22q11.21(chr22:21081260-21431174) CN GAIN Uncertain Significance
523275 GRCh37: 22:21081260-21431174
GRCh38:
48 CACNA1F NM_001256789.3(CACNA1F):c.3184C>T (p.Leu1062Phe) SNV Uncertain Significance
1048797 GRCh37: X:49072894-49072894
GRCh38: X:49216434-49216434
49 VPS13B NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) SNV Uncertain Significance
95840 rs140936527 GRCh37: 8:100286501-100286501
GRCh38: 8:99274273-99274273
50 TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343) CN LOSS Uncertain Significance
523291 GRCh37: 8:109990022-110168343
GRCh38:

Expression for Eye Disease

Search GEO for disease gene expression data for Eye Disease.

Pathways for Eye Disease



Pathways directly related to Eye Disease:

# Pathway Source
1 Defective B3GALTL causes PpS Reactome 66

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 photoreceptor inner segment GO:0001917 9.76 TULP1 RDH12 RD3 CRB1
2 cell projection GO:0042995 9.7 ABCA4 ALMS1 BBS9 CRB1 EYS GPHN
3 transmembrane transporter complex GO:1902495 9.67 CNGB3 CNGA3
4 intracellular cyclic nucleotide activated cation channel complex GO:0017071 9.62 CNGB3 CNGA3
5 interphotoreceptor matrix GO:0033165 9.56 IMPG2 EYS
6 photoreceptor outer segment GO:0001750 9.47 TULP1 RD3 EYS CRB1 CNGB3 CACNA1F

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.13 ABCA4 ABCC6 BBS9 CACNA1F CHM CNGA3
2 retinol metabolic process GO:0042572 9.93 RPE65 RDH12 LRAT
3 photoreceptor cell maintenance GO:0045494 9.92 TULP1 RDH12 CRB1 ABCA4
4 retina development in camera-type eye GO:0060041 9.88 TULP1 RPE65 RD3 CRB1
5 retinoid metabolic process GO:0001523 9.86 RPE65 RDH12 LRAT ABCA4
6 detection of light stimulus involved in visual perception GO:0050908 9.85 CACNA1F CRB1 EYS RPE65 TULP1
7 response to magnesium ion GO:0032026 9.78 CNGA3 ABCC6
8 retina morphogenesis in camera-type eye GO:0060042 9.77 CRB1 IMPG2 RPE65
9 vitamin A metabolic process GO:0006776 9.73 RPE65 LRAT
10 response to stimulus GO:0050896 9.53 ABCA4 ABCC6 BBS9 CACNA1F CHM CNGA3

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

# Name GO ID Score Top Affiliating Genes
1 intracellular cAMP-activated cation channel activity GO:0005222 9.26 CNGB3 CNGA3
2 intracellular cGMP-activated cation channel activity GO:0005223 8.92 CNGB3 CNGA3

Sources for Eye Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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