MCID: EYD002
MIFTS: 57

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 44 D005128
NCIt 50 C26767
SNOMED-CT 67 371409005
ICD10 32 H44
UMLS 70 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 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 aland island eye disease and macular degeneration, age-related, 1. An important gene associated with Eye Disease is CNGB3 (Cyclic Nucleotide Gated Channel Subunit Beta 3), and among its related pathways/superpathways are Phototransduction and the visual cycle I (vertebrates). The drugs Methotrexate and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and endothelial, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 73 This is a partial list of publishes a classification of known diseases and injuries, the International... 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 760)
# Related Disease Score Top Affiliating Genes
1 aland island eye disease 33.6 RPGRIP1 NYX NR2E3 CACNA1F ABCA4
2 macular degeneration, age-related, 1 32.8 RDH12 NR2E3 IMPG2 GNAT2 CNGB3 CNGA3
3 retinal disease 32.6 RPGRIP1 RDH12 NYX NR2E3 IMPG2 CNGB3
4 usher syndrome 32.4 RPGRIP1 RDH12 NR2E3 GNAT2 CNGB3 CNGA3
5 retinal degeneration 32.3 ZFYVE26 RPGRIP1 RP2 RDH12 RBP4 NR2E3
6 senior-loken syndrome 1 32.3 RPGRIP1 RDH12 AHI1
7 retinoschisis 1, x-linked, juvenile 32.2 NYX NR2E3 GNAT2 CNGB3 CNGA3 CHM
8 enhanced s-cone syndrome 32.1 NR2E3 IMPG2 GNAT2 CNGB3 CNGA3
9 myopia 32.1 TYR NYX CNGB3 CACNA1F
10 leber congenital amaurosis 1 32.0 RPGRIP1 RDH12 CNGB3 CNGA3
11 leber congenital amaurosis 2 32.0 RPGRIP1 RDH12 CNGB3
12 pigmented paravenous chorioretinal atrophy 31.9 RDH12 ABCA4
13 macular degeneration, age-related, 2 31.9 IMPG2 ABCA4
14 night blindness 31.5 RP2 RBP4 NYX NR2E3 CHM CACNA1F
15 pathologic nystagmus 31.4 TYR RPGRIP1 RDH12 NYX GNAT2 CNGB3
16 retinitis pigmentosa 31.4 ZFYVE26 TYR TRPM6 RPGRIP1 RP2 RDH12
17 congenital stationary night blindness 31.4 TRPM6 RPGRIP1 RDH12 NYX NR2E3 GNAT2
18 color blindness 31.0 RPGRIP1 NR2E3 GNAT2 CNGB3 CNGA3 ABCA4
19 leber plus disease 30.9 ZFYVE26 RPGRIP1 RP2 RDH12 NYX NR2E3
20 fundus dystrophy 30.8 ZFYVE26 RPGRIP1 RP2 RDH12 NYX NR2E3
21 night blindness, congenital stationary, type 2a 30.8 NYX GNAT2 CACNA1F
22 choroideremia 30.8 CNGB3 CNGA3 CHM ABCA4
23 cone-rod dystrophy 2 30.7 ZFYVE26 RPGRIP1 RP2 RDH12 NYX NR2E3
24 cone dystrophy 30.7 RPGRIP1 RDH12 NR2E3 GNAT2 CNGB3 CNGA3
25 achromatopsia 30.7 RPGRIP1 RDH12 NYX NR2E3 GNAT2 CNGB3
26 congenital nystagmus 30.6 TYR CNGB3 CNGA3
27 stargardt disease 30.6 RDH12 NR2E3 IMPG2 GNAT2 CNGB3 CNGA3
28 fundus albipunctatus 30.6 RDH12 NR2E3 CACNA1F ABCA4
29 achromatopsia 3 30.5 RPGRIP1 NYX GNAT2 CNGB3 CNGA3 CACNA1F
30 blue cone monochromacy 30.5 NYX NR2E3 GNAT2 CNGB3 CNGA3
31 solar retinopathy 30.5 RDH12 IMPG2 ABCA4
32 retinitis pigmentosa 3 30.4 RPGRIP1 RP2 ABCA4
33 scotoma 30.4 CNGB3 CNGA3 ABCA4
34 color vision deficiency 30.4 RPGRIP1 NR2E3 CNGA3
35 x-linked congenital stationary night blindness 30.4 NYX CACNA1F
36 oguchi disease 30.3 NYX CACNA1F
37 bestrophinopathy, autosomal recessive 30.1 IMPG2 ABCA4
38 cone-rod dystrophy 3 29.9 CACNA1F ABCA4
39 fish-eye disease 11.7
40 bornholm eye disease 11.4
41 dry eye syndrome 11.1
42 cavitary optic disc anomalies 11.0
43 exophthalmos 11.0
44 microvascular complications of diabetes 5 11.0
45 optic nerve disease 11.0
46 coach syndrome 1 11.0
47 rare genetic eye disease 10.9
48 lecithin:cholesterol acyltransferase deficiency 10.9
49 superior limbic keratoconjunctivitis 10.9
50 hyperthyroidism 10.9

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:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.07 RPGRIP1 TRPM6
2 Decreased viability GR00221-A-2 10.07 RPGRIP1 TRPM6
3 Decreased viability GR00221-A-4 10.07 RPGRIP1 TRPM6
4 Decreased viability GR00249-S 10.07 RBP4 RP2 TYR
5 Decreased viability GR00301-A 10.07 RPGRIP1
6 Decreased viability GR00381-A-1 10.07 CACNA2D4 NYX RBP4 RPGRIP1
7 Decreased viability GR00381-A-2 10.07 NYX RBP4
8 Decreased viability GR00381-A-3 10.07 NYX RBP4
9 Decreased viability GR00386-A-1 10.07 GNAT2 RPGRIP1 ZFYVE26
10 Decreased viability GR00402-S-2 10.07 ABCC6 LCAT NYX RDH12 ZFYVE26
11 Increased the percentage of infected cells GR00402-S-1 8.62 RDH12 TRPM6

MGI Mouse Phenotypes related to Eye Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 AHI1 CACNA1F CHM CNGA3 CNGB3
2 vision/eye MP:0005391 9.62 ABCA4 ABCC6 AHI1 CACNA1F CACNA2D4 CHM
3 renal/urinary system MP:0005367 9.5 ABCC6 AHI1 CNGA3 LCAT RBP4 TYR

Drugs & Therapeutics for Eye Disease

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

(show top 50) (show all 270)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
4
Propylthiouracil Approved, Investigational Phase 4 51-52-5 657298
5
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
6
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
7
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
8
Bevacizumab Approved, Investigational Phase 4 216974-75-3
9
Bromfenac Approved Phase 4 91714-94-2 60726
10
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
13
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
14
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
15
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
16
Propranolol Approved, Investigational Phase 4 525-66-6 4946
17
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
18
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
19
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
20
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
21
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
22
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
23
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
24
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
25
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
26
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
27
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
28 Vitamin B9 Phase 4
29 Vitamin B Complex Phase 4
30 Folate Phase 4
31 Dermatologic Agents Phase 4
32 Folic Acid Antagonists Phase 4
33 Antimetabolites Phase 4
34 Immunoglobulins, Intravenous Phase 4
35 Antithyroid Agents Phase 4
36 Anti-Infective Agents, Local Phase 4
37 Benzalkonium Compounds Phase 4
38 Triamcinolone diacetate Phase 4
39 triamcinolone acetonide Phase 4
40 Hydrocortisone hemisuccinate Phase 4
41 Triamcinolone hexacetonide Phase 4
42 Hydrocortisone 17-butyrate 21-propionate Phase 4
43 Mitogens Phase 4
44 Endothelial Growth Factors Phase 4
45 Carbonic Anhydrase Inhibitors Phase 4
46 Carbopol 940 Phase 4
47 Analgesics, Non-Narcotic Phase 4
48 Analgesics Phase 4
49 Anti-Inflammatory Agents, Non-Steroidal Phase 4
50 Cyclooxygenase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 513)
# Name Status NCT ID Phase Drugs
1 Phase IV Study of Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Unknown status NCT01738243 Phase 4 Hyaluronic Acid Gel injection;Saline injection
2 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
3 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
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 Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO Unknown status NCT02378298 Phase 4 Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
6 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4 Propylthiouracil
7 A Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4 methylprednisolone, prednisone
8 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
9 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
10 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
11 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
12 Objective Measurements of Prolonged Effects of Restasis on Dry Eye Disease Completed NCT00567177 Phase 4 Restasis, Refresh Plus
13 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
14 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)
15 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
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 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
18 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
19 Effect of Cequa Treatment on Accuracy of Pre-operative Biometry and Higher Order Aberrations in Dry Eye Patients Undergoing Cataract Surgery Completed NCT04342988 Phase 4 Cequa
20 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
21 Randomized Assessor Masked Trial Comparing Manuka Honey Eye Drops to Conventional Treatment of Meibomian Gland Dysfunction Related Dry Eye Disease. Completed NCT04457648 Phase 4
22 Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease Completed NCT02004067 Phase 4 Restasis;Refresh Endura
23 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
24 Effect of Lifitegrast on Dry Eye Disease Signs and Symptoms Completed NCT03451396 Phase 4 Lifitegrast
25 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
26 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)
27 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
28 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4 Diclofenac;Methimazole;L-thyroxin;Propranolol;Metoprolol
29 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
30 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
31 Aqueous Humor Dynamic Components That Determine Intraocular Pressure Variance Recruiting NCT04412096 Phase 4 Timolol 0.5% ophthalmic solution;Latanoprost 0.005% Ophthalmic Solution
32 Intracanalicular Dexamethasone Used in Conjunction With Xiidra (Lifitegrast Ophthalmic Solution) for the Treatment of Signs and Symptoms of Dry Eye Disease as Compared to Xiidra Alone Recruiting NCT04413253 Phase 4 Lifitegrast 5% Ophthalmic Solution;Dexamethasone Intracanalicular Insert, 0.4mg with Lifitegrast 5% Ophthalmic Solution
33 Effect of Cequa™ in Subjects With Dry Eye Disease That Is Currently Inadequately Controlled While on Cyclosporine 0.05% Ophthalmic Emulsion Recruiting NCT04357795 Phase 4 CequaTM (Cyclosporine 0.09%) ophthalmic solution
34 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 Recruiting NCT04413279 Phase 4 Dexamethasone Intracanalicular Insert, 0.4mg with LipiFlow Thermal Pulsation
35 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
36 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 Recruiting NCT03888183 Phase 4 salt solution without 0.15% HA;preservative-free 0.15% HA
37 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. Recruiting NCT04555694 Phase 4 Cyclosporin;Loteprednol Etabonate;Dexamethasone Ophthalmic 0.4 Mg Ophthalmic Insert
38 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)
39 Predicting the Success of Dry Eye Disease Interventions Using Clinical Tests Recruiting NCT04125134 Phase 4 Preservative-free Refresh Optive Advanced Lubricant Eye Drops
40 Using A Novel Classification System in Intravenous Glucocorticoids Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4 Glucocorticoids
41 Pre-surgical Ocular Surface Treatment With Intracanalicular Dexamethasone Insert and Effect on Intraocular Lens Measurement Accuracy - The PRECISION Study Not yet recruiting NCT04530864 Phase 4 Dextenza 0.4Mg Ophthalmic Insert
42 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 Not yet recruiting NCT04583735 Phase 4 Placebo
43 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 Not yet recruiting NCT04127851 Phase 4 TJO-018;Cyclosporine Ophthalmic Emulsion 0.05%;TJO-018 + Cyclosporine Ophthalmic Emulsion 0.05%
44 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 Not yet recruiting NCT04679935 Phase 4
45 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
46 Investigating iLux Efficacy in Contact Lens Wearers With Evaporative Dry Eye Disease Suspended NCT04159935 Phase 4
47 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Withdrawn NCT01927406 Phase 4 Prostaglandin Analog;Timolol
48 A Phase IV, Randomized, Parallel Group, Investigator-Masked Evaluation of the Effect of Loteprednol Etabonate Ophthalmic Gel 0.5% on the Initiation of Dry Eye Treatment With Restasis® Withdrawn NCT02028312 Phase 4 Loteprednol etabonate;Artificial Tears;Restasis
49 Use of 5.0% Lifitegrast Ophthalmic Solution for the Treatment of Dry Eye Disease in Contact Lens Wearers Withdrawn NCT03431272 Phase 4 Lifitegrast
50 Effects of Xiidra on Closed Eye Tear Film Leukocytes in Dry Eye Disease Withdrawn NCT03408015 Phase 4 Lifitegrast

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, Endothelial, Retina, T Cells, Liver, Neutrophil

Publications for Eye Disease

Articles related to Eye Disease:

(show top 50) (show all 12192)
# Title Authors PMID Year
1
Acceptability of Telegenetics for Families with Genetic Eye Diseases. 61 42
33672002 2021
2
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. 6
24123792 2013
3
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 6
20673862 2010
4
Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). 6
16098056 2005
5
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 6
15258582 2004
6
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. 6
12673275 2003
7
CNGA3 mutations in hereditary cone photoreceptor disorders. 6
11536077 2001
8
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 6
11536079 2001
9
Genetic basis of total colourblindness among the Pingelapese islanders. 6
10888875 2000
10
An algorithm in ophthalmic emergencies to evaluate the necessity of physical consultation during COVID-19 lockdown in Paris: Experience of the first 100 patients. 42
33612327 2021
11
Changes in patient visits and diagnoses in a large academic center during the COVID-19 pandemic. 42
33743634 2021
12
PEDF in angiogenic eye diseases. 61 54
20236057 2010
13
Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? 54 61
20464711 2010
14
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 54 61
20085643 2010
15
Implications of new monoclonal antibodies and the crystal structure of the TSH receptor for the treatment and management of thyroid diseases. 61 54
20477447 2008
16
Effects of sequential artificial tear and cyclosporine emulsion therapy on conjunctival goblet cell density and transforming growth factor-beta2 production. 54 61
18245969 2008
17
Pigment epithelium-derived factor prevents melanoma growth via angiogenesis inhibition. 54 61
19128233 2008
18
Positive correlation of pigment epithelium-derived factor and total antioxidant capacity in aqueous humour of patients with uveitis and proliferative diabetic retinopathy. 54 61
17389742 2007
19
L1 retrotransposition can occur early in human embryonic development. 54 61
17483097 2007
20
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. 54 61
17439325 2007
21
Pigment epithelium-derived factor (PEDF) inhibits angiotensin II-induced smooth muscle cell proliferation through its anti-oxidative properties. 54 61
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. 54 61
17042681 2006
23
[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. 61 54
17081426 2006
24
High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. 54 61
16260177 2005
25
Pigment epithelium-derived factor (PEDF)-induced apoptosis and inhibition of vascular endothelial growth factor (VEGF) expression in MG63 human osteosarcoma cells. 61 54
15985268 2005
26
[Fish eye disease revealing a partial LCAT deficiency]. 61 54
15936482 2005
27
PAX6 mutations: genotype-phenotype correlations. 61 54
15918896 2005
28
Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran. 61 54
15820772 2005
29
Mutation analysis of PAX6 gene in a large Chinese family with aniridia. 54 61
15740668 2005
30
Met72Thr polymorphism of pigment epithelium-derived factor gene and susceptibility to age-related macular degeneration. 61 54
15823717 2005
31
Concentration of transforming growth factor beta2 in aqueous humor. 54 61
15637419 2005
32
Gene symbol: LCAT. Disease: Fish eye disease. 54 61
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. 61 54
16982592 2004
34
Decrease of pigment epithelium-derived factor in aqueous humor with increasing age. 61 54
15126162 2004
35
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. 54 61
15123989 2004
36
Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo. 54 61
15039211 2004
37
Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. 54 61
14661078 2004
38
[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. 61 54
12886512 2003
39
Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. 61 54
12766045 2003
40
Adipose thyrotrophin receptor expression is elevated in Graves' and thyroid eye diseases ex vivo and indicates adipogenesis in progress in vivo. 54 61
12790806 2003
41
The molecular genetics of the corneal dystrophies--current status. 61 54
12700042 2003
42
Inhibitory effects of ketotifen on eotaxin-dependent activation of eosinophils: consequences for allergic eye diseases. 61 54
12752326 2003
43
Pigment epithelium-derived factor inhibits leptin-induced angiogenesis by suppressing vascular endothelial growth factor gene expression through anti-oxidative properties. 61 54
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. 54 61
12519841 2003
45
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 61 54
12447720 2002
46
Demonstration of immunoglobulin G, A, and E autoantibodies to the human thyrotropin receptor using flow cytometry. 54 61
11932312 2002
47
Differential occurrence of mutations causative of eye diseases in the Chinese population. 54 61
11857735 2002
48
Loss of the antiangiogenic pigment epithelium-derived factor in patients with angiogenic eye disease. 54 61
11723044 2001
49
[LCAT (lecithin:cholesterol acyltransferase)]. 61 54
11797372 2001
50
Quantification of MUC5AC protein in human tears. 54 61
11685069 2001

Variations for Eye Disease

ClinVar genetic disease variations for Eye Disease:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCC6 NM_001171.5(ABCC6):c.4104del (p.Asp1368fs) Deletion Pathogenic 433350 rs72664237 GRCh37: 16:16248589-16248589
GRCh38: 16:16154732-16154732
2 RDH12 , ZFYVE26 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) Deletion Pathogenic 2047 rs386834261 GRCh37: 14:68196054-68196058
GRCh38: 14:67729337-67729341
3 CNGB3 NM_019098.4(CNGB3):c.1208G>A (p.Arg403Gln) SNV Pathogenic 143154 rs147876778 GRCh37: 8:87645092-87645092
GRCh38: 8:86632864-86632864
4 CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs) Deletion 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 TRPM6 Deletion Likely pathogenic 438256 GRCh37: 9:77388717-77398576
GRCh38: 9:74773801-74783660
7 CACNA1F NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter) SNV Likely pathogenic 438125 rs782362725 GRCh37: X:49071548-49071548
GRCh38: X:49215088-49215088
8 AHI1 NM_001134831.2(AHI1):c.1912+1488_2036+506del Deletion Likely pathogenic 438231 GRCh37: 6:135759007-135762232
GRCh38: 6:135437869-135441094
9 TYR NM_000372.5(TYR):c.1037G>T (p.Gly346Val) SNV Likely pathogenic 437986 rs773970123 GRCh37: 11:88960991-88960991
GRCh38: 11:89227823-89227823
10 GNAT2 NM_005272.4(GNAT2):c.906C>A (p.Tyr302Ter) SNV Likely pathogenic 438058 rs1553226355 GRCh37: 1:110146135-110146135
GRCh38: 1:109603513-109603513
11 CNGA3 NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) SNV Likely pathogenic 265467 rs552069173 GRCh37: 2:99013321-99013321
GRCh38: 2:98396858-98396858
12 CACNA2D4 NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) SNV Likely pathogenic 208566 rs200098356 GRCh37: 12:1969369-1969369
GRCh38: 12:1860203-1860203
13 ABCC6 NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) SNV Likely pathogenic 6569 rs63750459 GRCh37: 16:16256967-16256967
GRCh38: 16:16163110-16163110
14 RPGRIP1 NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys) SNV Likely pathogenic 438161 rs565837539 GRCh37: 14:21794020-21794020
GRCh38: 14:21325861-21325861
15 NR2E3 NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) SNV Likely pathogenic 438227 rs772881093 GRCh37: 15:72104165-72104165
GRCh38: 15:71811825-71811825
16 NYX NM_022567.2(NYX):c.936C>G (p.Asn312Lys) SNV Likely pathogenic 438056 rs1555967263 GRCh37: X:41333642-41333642
GRCh38: X:41474389-41474389
17 RBP4 NM_006744.4(RBP4):c.248+1G>A SNV Likely pathogenic 438114 rs111785373 GRCh37: 10:95360423-95360423
GRCh38: 10:93600666-93600666
18 CNGB3 NM_019098.4(CNGB3):c.1285del (p.Ser429fs) Deletion Likely pathogenic 427658 rs776896038 GRCh37: 8:87645015-87645015
GRCh38: 8:86632787-86632787
19 RP2 NM_006915.3(RP2):c.43del (p.Ser15fs) Deletion Likely pathogenic 437945 rs1556313474 GRCh37: X:46696578-46696578
GRCh38: X:46837143-46837143
20 CNGB3 NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) SNV Likely pathogenic 438042 rs200805087 GRCh37: 8:87591452-87591452
GRCh38: 8:86579224-86579224
21 CHM NM_000390.4(CHM):c.315-1536A>G SNV Likely pathogenic 438064 rs1555955061 GRCh37: X:85220593-85220593
GRCh38: X:85965588-85965588
22 CNGA3 NM_001298.3(CNGA3):c.107_110del (p.His36fs) Deletion Likely pathogenic 438155 rs749036398 GRCh37: 2:98994154-98994157
GRCh38: 2:98377691-98377694
23 overlap with 27 genes GRCh37/hg19 16p11.2(chr16:29656684-30197341) copy number gain Likely pathogenic 523255 GRCh37: 16:29656684-30197341
GRCh38:
24 overlap with 9 genes GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 GRCh37: 22:21081260-21431174
GRCh38:
25 TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343) copy number loss Uncertain significance 523291 GRCh37: 8:109990022-110168343
GRCh38:
26 VPS13B NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) SNV Uncertain significance 95840 rs140936527 GRCh37: 8:100286501-100286501
GRCh38: 8:99274273-99274273
27 VPS13B NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr) SNV Uncertain significance 95847 rs145417421 GRCh37: 8:100479824-100479824
GRCh38: 8:99467596-99467596
28 VPS13B NM_017890.4(VPS13B):c.6370_6371del (p.Met2124fs) Deletion Uncertain significance 242548 rs748404277 GRCh37: 8:100712001-100712002
GRCh38: 8:99699773-99699774

Expression for Eye Disease

Search GEO for disease gene expression data for Eye Disease.

Pathways for Eye Disease

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 transmembrane transporter complex GO:1902495 8.96 CNGB3 CNGA3
2 photoreceptor outer segment GO:0001750 8.92 GNAT2 CNGB3 CACNA1F ABCA4

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 TRPM6 CNGB3 CNGA3 CACNA2D4 CACNA1F
2 transmembrane transport GO:0055085 9.8 TRPM6 CNGA3 CACNA1F ABCC6 ABCA4
3 response to stimulus GO:0050896 9.73 RPGRIP1 RDH12 RBP4 NYX NR2E3 GNAT2
4 calcium ion transmembrane transport GO:0070588 9.63 TRPM6 CACNA2D4 CACNA1F
5 cation transport GO:0006812 9.5 TRPM6 CNGB3 CNGA3
6 visual perception GO:0007601 9.5 TYR RPGRIP1 RP2 RDH12 RBP4 NYX
7 retinoid metabolic process GO:0001523 9.43 RDH12 RBP4 ABCA4
8 eye photoreceptor cell development GO:0042462 9.37 RPGRIP1 NR2E3
9 detection of light stimulus involved in visual perception GO:0050908 9.33 GNAT2 CACNA2D4 CACNA1F

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.33 TRPM6 CACNA2D4 CACNA1F
2 cGMP binding GO:0030553 9.26 CNGB3 CNGA3
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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