Eye Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EYD002 MIFTS: 59	Eye Disease Categories: Eye diseases, Infectious diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Infectious diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of vitreous body and globe

Disorders of globe

ICD11: ³³

Certain infectious or parasitic diseases

Parasitic diseases

Nonintestinal protozoal diseases

Toxoplasmosis

Eye disease due to Toxoplasma gondii

External Ids:

Disease Ontology ¹¹ DOID:5614

ICD9CM ³⁴ 379.90

MeSH ⁴³ D005128

NCIt ⁴⁹ C26767

SNOMED-CT ⁶⁸ 371409005

ICD10 ³¹ H44

EFO ¹⁶ EFO_0003966

ICD11 ³³ 836709998

UMLS ⁷¹ C0015397

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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...

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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:

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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

Sources

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

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Propylthiouracil

Approved, Investigational

Phase 4

51-52-5

657298

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Tocopherol

Approved, Investigational

Phase 4

1406-66-2

Dinoprost tromethamine

Approved, Vet_approved

Phase 4

38562-01-5

Dinoprost

Approved, Investigational

Phase 4

551-11-1

5283078 5280363

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Levofloxacin

Approved, Investigational

Phase 4

100986-85-4

149096

Coal tar

Approved

Phase 4

8007-45-2

Ofloxacin

Approved

Phase 4

82419-36-1

4583

Dorzolamide

Approved

Phase 4

120279-96-1

5284549

Bevacizumab

Approved, Investigational

Phase 4

216974-75-3

135329020

Racephedrine

Approved, Experimental

Phase 4

299-42-3, 90-82-4, 90-81-3

5032 9294 7028

Methimazole

Approved

Phase 4

60-56-0

1349907

Diclofenac

Approved, Vet_approved

Phase 4

15307-86-5, 15307-79-6

3033

Metoprolol

Approved, Investigational

Phase 4

37350-58-6, 51384-51-1

4171

Propranolol

Approved, Investigational

Phase 4

318-98-9, 525-66-6

62882 4946

Tetryzoline

Approved

Phase 4

84-22-0

5419

Chloramphenicol

Approved, Vet_approved, Withdrawn

Phase 4

56-75-7

298 5959

Hydrocortisone succinate

Approved

Phase 4

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

3640 5754

Hydroxychloroquine

Approved

Phase 4

118-42-3

3652

Levoleucovorin

Approved, Experimental, Investigational

Phase 4

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 4

1959-05-2, 59-05-2

4112 126941

Rituximab

Approved

Phase 4

174722-31-7

Betamethasone

Approved, Vet_approved

Phase 4

378-44-9

9782

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Castor oil

Approved, Investigational, Nutraceutical, Vet_approved

Phase 4

8001-79-4

96919

DL-alpha-Tocopherol

Approved, Experimental, Investigational, Nutraceutical, Vet_approved

Phase 4

59-02-9, 10191-41-0

2116 14985

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Tocotrienol

Investigational

Phase 4

6829-55-6

9929901

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Cathartics

Phase 4

Castor

Phase 4

Anti-Infective Agents

Phase 4

Laxatives

Phase 4

Gastrointestinal Agents

Phase 4

Melanocyte-Stimulating Hormones

Phase 4

Adrenocorticotropic Hormone

Phase 4

beta-Endorphin

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

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

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Genetic Tests for Eye Disease

Genetic tests related to Eye Disease:

#	Genetic test	Affiliating Genes
1	Abnormality of the Eye ²⁸

Sources

Anatomical Context for Eye Disease

Organs/tissues related to Eye Disease:

FMA: Eye

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

Sources

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	Neveling K...Nelen MR	24123792	2013
2	Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. ⁵	Bandah-Rozenfeld D...den Hollander AI	20673862	2010
3	Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). ⁵	Miyamura Y...Tomita Y	16098056	2005
4	Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. ⁵	Janecke AR...Gal A	15258582	2004
5	ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. ⁵	Hu X...Bergen AA	12673275	2003
6	CNGA3 mutations in hereditary cone photoreceptor disorders. ⁵	Wissinger B...Kohl S	11536077	2001
7	A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. ⁵	Le Saux O...Boyd CD	11536079	2001
8	Genetic basis of total colourblindness among the Pingelapese islanders. ⁵	Sundin OH...Maumenee IH	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	Recchioni A...Rauz S	36460705	2022
10	Development of eye phantom for mimicking the deformation of the human cornea accompanied by intraocular pressure alterations. ⁴¹	Cho HS...Yang YS	36450788	2022
11	Changes in mean and variance of ophthalmic disease incidences during COVID-19 pandemic in Korea. ⁴¹	Choi HG...Baek SU	36437348	2022
12	PEDF in angiogenic eye diseases. ⁵³ ⁶²	Tombran-Tink J	20236057	2010
13	Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases? ⁵³ ⁶²	Wall JR...Lahooti H	20464711	2010
14	Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. ⁵³ ⁶²	Nagabhushana A...Swarup G	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	Rees Smith B...Furmaniak J	20477447	2008
16	Pigment epithelium-derived factor prevents melanoma growth via angiogenesis inhibition. ⁵³ ⁶²	Abe R...Shimizu H	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	Pflugfelder SC...Stern ME	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	Yoshida Y...Yamakawa R	17389742	2007
19	L1 retrotransposition can occur early in human embryonic development. ⁵³ ⁶²	van den Hurk JA...Cremers FP	17483097	2007
20	A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. ⁵³ ⁶²	Bender BU...Kraemer-Guth A	17439325	2007
21	Pigment epithelium-derived factor (PEDF) inhibits angiotensin II-induced smooth muscle cell proliferation through its anti-oxidative properties. ⁵³ ⁶²	Yamagishi S...Imaizumi T	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	Gopinath B...Wall JR	17042681	2006
23	[Establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene]. ⁵³ ⁶²	Han W...Yap MK	17081426	2006
24	High prevalence of alpha 1 antitrypsin phenotypes in viral hepatitis B infected patients in Iran. ⁵³ ⁶²	Hashemi M...Shahri SJ	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	Takenaka K...Imaizumi T	15985268	2005
26	[Fish eye disease revealing a partial LCAT deficiency]. ⁵³ ⁶²	Bourcier T...Heron E	15936482	2005
27	PAX6 mutations: genotype-phenotype correlations. ⁵³ ⁶²	Tzoulaki I...Hanson IM	15918896	2005
28	Alpha-1-antitrypsin phenotypes and HLA-B27 typing in uveitis patients in southeast Iran. ⁵³ ⁶²	Ghavami S...Fernandez Bustillo E	15820772	2005
29	Mutation analysis of PAX6 gene in a large Chinese family with aniridia. ⁵³ ⁶²	Song SJ...Li LS	15740668	2005
30	Met72Thr polymorphism of pigment epithelium-derived factor gene and susceptibility to age-related macular degeneration. ⁵³ ⁶²	Yamagishi S...Takeuchi M	15823717	2005
31	Concentration of transforming growth factor beta2 in aqueous humor. ⁵³ ⁶²	Yamamoto N...Majima K	15637419	2005
32	Gene symbol: LCAT. Disease: Fish eye disease. ⁵³ ⁶²	Boutboul S...Laroche L	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	Krassas G...Flyvbjerg A	16982592	2004
34	Decrease of pigment epithelium-derived factor in aqueous humor with increasing age. ⁵³ ⁶²	Ogata N...Matsumura M	15126162	2004
35	Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo. ⁵³ ⁶²	Abe R...Shimizu H	15039211	2004
36	Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders. ⁵³ ⁶²	Mukhopadhyay A...Ray K	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	Han W...Yap MKH	14661078	2004
38	[Ocular manifestation in LCAT deficiency--a clinicopathological correlation]. ⁵³ ⁶²	Viestenz A...Seitz B	12886512	2003
39	Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. ⁵³ ⁶²	Nielsen K...Orntoft TF	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	Starkey KJ...Ludgate M	12790806	2003
41	Inhibitory effects of ketotifen on eotaxin-dependent activation of eosinophils: consequences for allergic eye diseases. ⁵³ ⁶²	Woerly G...Capron M	12752326	2003
42	The molecular genetics of the corneal dystrophies--current status. ⁵³ ⁶²	Klintworth GK	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	Yamagishi S...Inoue H	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	Krassas GE...Flyvbjerg A	12519841	2003
45	[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. ⁵³ ⁶²	Viestenz A...Naumann GO	12447720	2002
46	Demonstration of immunoglobulin G, A, and E autoantibodies to the human thyrotropin receptor using flow cytometry. ⁵³ ⁶²	Metcalfe R...Ludgate M	11932312	2002
47	Differential occurrence of mutations causative of eye diseases in the Chinese population. ⁵³ ⁶²	Pang CP...Lam DS	11857735	2002
48	Loss of the antiangiogenic pigment epithelium-derived factor in patients with angiogenic eye disease. ⁵³ ⁶²	Spranger J...Pfeiffer AF	11723044	2001
49	Quantification of MUC5AC protein in human tears. ⁵³ ⁶²	Zhao H...Jumblatt MM	11685069	2001
50	[LCAT (lecithin:cholesterol acyltransferase)]. ⁵³ ⁶²	Kinoshita M...Teramoto T	11797372	2001

Sources

Genes for Eye Disease

Genes related to Eye Disease (16 elite genes):

(show top 50) (show all 468)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	455.09	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11857735 10711710
2	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	433.97	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	432.76	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	11536077
4	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	432.68	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	10888875
5	RDH12	Retinol Dehydrogenase 12	Protein Coding	432.36	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	15258582
6	ABCC6	ATP Binding Cassette Subfamily C Member 6	Protein Coding	431.36	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	11536079 12673275
7	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	431.24	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	GPHN	Gephyrin	Protein Coding	429.62	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	15258582
9	ZFYVE26	Zinc Finger FYVE-Type Containing 26	Protein Coding	429.56	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	15258582
10	CRYAA	Crystallin Alpha A	Protein Coding	414.14	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
11	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	407.26	Pathogenic ⁵ DISEASES inferred ¹⁴
12	TULP1	TUB Like Protein 1	Protein Coding	407.23	Pathogenic ⁵ DISEASES inferred ¹⁴
13	EYS	Eyes Shut Homolog	Protein Coding	407.16	Pathogenic ⁵ DISEASES inferred ¹⁴
14	ALMS1	ALMS1 Centrosome And Basal Body Associated Protein	Protein Coding	406.71	Pathogenic ⁵ DISEASES inferred ¹⁴
15	IMPG2	Interphotoreceptor Matrix Proteoglycan 2	Protein Coding	406.4	Pathogenic ⁵ DISEASES inferred ¹⁴	20673862
16	RD3	RD3 Regulator Of GUCY2D	Protein Coding	406.4	Pathogenic ⁵ DISEASES inferred ¹⁴
17	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	67.76	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
18	LCAT	Lecithin-Cholesterol Acyltransferase	Protein Coding	39.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	1571050 8620346 7746888 (more) 7853712 7602789 8464161 1518505 1925941 7853705 12886512 17439325 9645018 2052566 12700042 15678588 11797372 12447720 8820100 7721870 8143678 9399019 15936482
19	CHM	CHM Rab Escort Protein	Protein Coding	38.74	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9067750 9175730 17483097
20	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	33.11	Likely pathogenic ⁵ DISEASES inferred ¹⁴
21	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	32.94	Likely pathogenic ⁵ DISEASES inferred ¹⁴
22	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	32.71	Likely pathogenic ⁵ DISEASES inferred ¹⁴
23	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	32.5	Likely pathogenic ⁵ DISEASES inferred ¹⁴
24	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	32.48	Likely pathogenic ⁵ DISEASES inferred ¹⁴
25	TYR	Tyrosinase	Protein Coding	32.3	Likely pathogenic ⁵ DISEASES inferred ¹⁴	16098056
26	PDE6C	Phosphodiesterase 6C	Protein Coding	32.2	Likely pathogenic ⁵ DISEASES inferred ¹⁴
27	NYX	Nyctalopin	Protein Coding	32.12	Likely pathogenic ⁵ DISEASES inferred ¹⁴
28	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	31.61	Likely pathogenic ⁵ DISEASES inferred ¹⁴	24123792
29	AHI1	Abelson Helper Integration Site 1	Protein Coding	31.46	Likely pathogenic ⁵ DISEASES inferred ¹⁴
30	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	31.04	Likely pathogenic ⁵ DISEASES inferred ¹⁴
31	RBP4	Retinol Binding Protein 4	Protein Coding	30.57	Likely pathogenic ⁵ DISEASES inferred ¹⁴
32	FYCO1	FYVE And Coiled-Coil Domain Autophagy Adaptor 1	Protein Coding	30.49	Likely pathogenic ⁵ DISEASES inferred ¹⁴
33	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	29.74	Likely pathogenic ⁵ DISEASES inferred ¹⁴
34	TRPM6	Transient Receptor Potential Cation Channel Subfamily M Member 6	Protein Coding	29.58	Likely pathogenic ⁵ DISEASES inferred ¹⁴
35	ARL6	ADP Ribosylation Factor Like GTPase 6	Protein Coding	29.57	Likely pathogenic ⁵ DISEASES inferred ¹⁴
36	CFH	Complement Factor H	Protein Coding	24.16	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
37	ARMS2	Age-Related Maculopathy Susceptibility 2	Protein Coding	23.62	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
38	NPHP1	Nephrocystin 1	Protein Coding	22.53	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
39	C3	Complement C3	Protein Coding	21.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
40	PAX6	Paired Box 6	Protein Coding	21.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15740668 7659159 11857735 (more) 18637741 15918896
41	CFB	Complement Factor B	Protein Coding	21.67	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
42	SERPINF1	Serpin Family F Member 1	Protein Coding	21.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11723044 17627605 15823717 (more) 12711260 15039211 15126162 20236057 17389742 15985268 19128233
43	HTRA1	HtrA Serine Peptidase 1	Protein Coding	21.53	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
44	C2	Complement C2	Protein Coding	20.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
45	OAT	Ornithine Aminotransferase	Protein Coding	20.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Summaries (show sections)	2220818 1487247
46	TSHR	Thyroid Stimulating Hormone Receptor	Protein Coding	20.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11932312 12790806 20464711 (more) 20477447 9623732 10202044 10718823
47	BPIFA1	BPI Fold Containing Family A Member 1	Protein Coding	18.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Functions (show sections)
48	LMOD1	Leiomodin 1	Protein Coding	18.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8796336 15251739 9709953
49	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	17.86	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
50	GK	Glycerol Kinase	Protein Coding	17.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2163974 8357005 2159212

Sources

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:

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Expression for Eye Disease

Search GEO for disease gene expression data for Eye Disease.

Sources

Pathways for Eye Disease

Pathways directly related to Eye Disease:

#	Pathway	Source
1	Defective B3GALTL causes PpS	Reactome ⁶⁶

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

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.24	RPE65 RDH12 LRAT ABCA4
2	Visual Cycle in Retinal Rods ⁶⁴	11.33	RPE65 RDH12 LRAT CNGB3 CNGA3
3	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.3	RPE65 RDH12 LRAT ABCA4
4	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.2	RPE65 RDH12 LRAT
5	Vitamin A and carotenoid metabolism ⁷⁴	11.12	RPE65 RDH12 LRAT
6	Retinol metabolism (WikiPathways) ⁷⁴	10.69	RPE65 RDH12 LRAT
7	Visual signal transduction: Cones ⁶¹	10.38	RPE65 RDH12 LRAT CNGB3 CNGA3

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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