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MCID: AST006
MIFTS: 47

Astigmatism

Categories: Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Astigmatism

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MalaCards integrated aliases for Astigmatism:

Name: Astigmatism 56 12 74 29 54 6 43 15 71 32

Classifications:

MalaCards categories:
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:11782
OMIM 56 603047
ICD9CM 34 367.2
MeSH 43 D001251
SNOMED-CT 67 82649003
ICD10 32 H52.2
MedGen 41 C0004106
UMLS 71 C0004106
Sources

Summaries for Astigmatism

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OMIM : 56 Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998). (603047)

MalaCards based summary : Astigmatism is related to irregular astigmatism and refractive error, and has symptoms including blurred vision and aniseikonia. An important gene associated with Astigmatism is ANKRD11 (Ankyrin Repeat Domain 11). The drugs Atropine and Tropicamide have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes.

Disease Ontology : 12 A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has symptom blurred vision.

Wikipedia : 74 Astigmatism is a type of refractive error in which the eye does not focus light evenly on the retina.... more...

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Related Diseases for Astigmatism

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 irregular astigmatism 34.5 KRT3 KRT12
2 refractive error 33.1 TOX NRXN1 CASC15
3 aland island eye disease 32.8 GPR143 CACNA1F
4 corneal dystrophy, meesmann, 1 32.0 KRT3 KRT12
5 pathologic nystagmus 31.2 GPR143 FRMD7 CACNA1F
6 corneal degeneration 30.8 KRT3 KRT12
7 recurrent corneal erosion 30.8 KRT3 KRT12
8 pseudopterygium 30.6 KRT3 KRT12
9 aniridia 1 30.5 KRT3 KRT12 FRMD7
10 regular astigmatism 12.5
11 rare hyperopia and astigmatism 12.2
12 keratoconus 11.7
13 isolated ectopia lentis 11.6
14 amblyopia 11.6
15 ametropic amblyopia 11.4
16 keratoconus 8 11.4
17 keratoconus 1 11.4
18 retinitis pigmentosa 11.4
19 cataract 11.2
20 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
21 lymphedema-distichiasis syndrome 11.2
22 ectopia lentis et pupillae 11.2
23 nystagmus 6, congenital, x-linked 11.2
24 nystagmus 1, congenital, x-linked 11.2
25 joint laxity, short stature, and myopia 11.2
26 myopia 11.2
27 myhre syndrome 11.1
28 lacrimal duct defect 11.1
29 nystagmus 2, congenital, autosomal dominant 11.1
30 nystagmus 4, congenital, autosomal dominant 11.1
31 keratoconus posticus circumscriptus 11.1
32 macrocephaly/megalencephaly syndrome, autosomal recessive 11.1
33 pilodental dysplasia with refractive errors 11.1
34 nystagmus 5, congenital, x-linked 11.1
35 ifap syndrome with or without bresheck syndrome 11.1
36 nystagmus 3, congenital, autosomal dominant 11.1
37 keratoconus 5 11.1
38 nystagmus 7, congenital, autosomal dominant 11.1
39 corneal dystrophy, meesmann, 2 11.1
40 double pterygium 11.1
41 central pterygium 11.1
42 progressive peripheral pterygium 11.1
43 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.1
44 ocular motor apraxia 10.8
45 suppression amblyopia 10.8
46 anisometropia 10.7
47 strabismus 10.6
48 mechanical strabismus 10.6
49 x-linked infantile nystagmus 10.6 GPR143 FRMD7
50 keratitis, hereditary 10.6

Graphical network of the top 20 diseases related to Astigmatism:



Diseases related to Astigmatism
Sources

Symptoms & Phenotypes for Astigmatism

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Clinical features from OMIM:

603047

Symptoms:

12
  • • blurred vision

UMLS symptoms related to Astigmatism:


aniseikonia
Sources

Drugs & Therapeutics for Astigmatism

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

(show top 50) (show all 115)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
2
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
3
Fluorouracil Approved Phase 4 51-21-8 3385
4
Bevacizumab Approved, Investigational Phase 4 216974-75-3
5
Ganciclovir Approved, Investigational Phase 4 82410-32-0 3454
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
11 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
13
Dipivefrin Approved Phase 4 52365-63-6 3105
14 Propoxycaine Approved Phase 4 86-43-1
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Mydriatics Phase 4
17 Parasympatholytics Phase 4
18 Cholinergic Agents Phase 4
19 Anti-Arrhythmia Agents Phase 4
20 Anti-Asthmatic Agents Phase 4
21 Muscarinic Antagonists Phase 4
22 Cholinergic Antagonists Phase 4
23 Bronchodilator Agents Phase 4
24 Immunologic Factors Phase 4
25 Immunosuppressive Agents Phase 4
26 Angiogenesis Inhibitors Phase 4
27 Antimetabolites Phase 4
28 Antineoplastic Agents, Immunological Phase 4
29 Ganciclovir triphosphate Phase 4
30 Anti-Bacterial Agents Phase 4
31 Antibiotics, Antitubercular Phase 4
32 Protective Agents Phase 4
33 Hormones Phase 4
34 Methylprednisolone Acetate Phase 4
35 Antineoplastic Agents, Hormonal Phase 4
36 Hormone Antagonists Phase 4
37 Fluoroquinolones Phase 4
38 Neuroprotective Agents Phase 4
39 Antiemetics Phase 4
40 Gastrointestinal Agents Phase 4
41 glucocorticoids Phase 4
42 Anti-Inflammatory Agents Phase 4
43 BB 1101 Phase 4
44 Adrenergic Agents Phase 4
45 Adrenergic Agonists Phase 4
46 Neurotransmitter Agents Phase 4
47 Proxymetacaine Phase 4
48 Pharmaceutical Solutions Phase 4
49 Anesthetics, Local Phase 4
50
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676

Interventional clinical trials:

(show top 50) (show all 414)
# Name Status NCT ID Phase Drugs
1 Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia Unknown status NCT01554761 Phase 4
2 Clinical Evaluation of Toric Intraocular Lens Made by Aurolab Unknown status NCT01396616 Phase 4
3 A Prospective, Randomized, Multi Center Clinical Comparison Of Fellow Eyes Undergoing Lasik Using The Amo/Visx Customvue™ , The Bausch And Lomb Zyoptix And Planoscan And The Wavelight Allegretto Wave™ Wavefront Guided And Wavefront Optimized Excimer Laser Systems Unknown status NCT00770094 Phase 4
4 PHASE IV STUDY # 1162. Prospective Investigation of SUPRACOR Visual Outcomes of Presbyopic Hyperopic Patients With and Without Astigmatism Unknown status NCT01628146 Phase 4
5 Comparison of Next Generation Laser Techniques of Myopia Correction: iDesign vs. SMILE Unknown status NCT03001401 Phase 4
6 Pilot Study of Prevention Myopia in Children With Low Concentration of Atropine Unknown status NCT00541177 Phase 4 atropine;tropicamide
7 Management of Recurrent Pterygium to Prevent Visual Impairment Unknown status NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
8 Use of Toric Intraocular Lens to Neutralize Keratometric Astigmatism Completed NCT00925886 Phase 4
9 Monocular Study to Evaluate the Safety and Effectiveness of the Akreos™ Toric IOL When Used to Correct Primary Aphakia With the Reduction of Astigmatism Completed NCT00825513 Phase 4
10 Incisional Correction of Corneal Astigmatism During Phacoemulsification Completed NCT04418986 Phase 4
11 Comparison of Toric IOL Implantation and Opposite Clear Corneal Incision During Cataract Surgery to Correct Corneal Astigmatism Completed NCT01763151 Phase 4
12 A Single-Center Study Comparing the Clinical Performance of Biofinity Toric Versus Air Optix for Astigmatism Over 1 Month of Daily Wear. Completed NCT01965288 Phase 4
13 Intrastromal Corneal Ring Segment Implantation for High Astigmatism on Postkeratoplasty Eyes Completed NCT01018797 Phase 4
14 Phase IV Study_Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy Following the Cataract Surgery. Completed NCT01885780 Phase 4
15 Clinical Performance of Habitual Wearers of Hydrogel Toric Lenses When Refitted With Avaira Toric Silicone Hydrogel Lenses Completed NCT02142361 Phase 4
16 Evaluation of the Acrysof Toric Model SN60T3 Intraocular Lens in Patients With Predicted Residual Corneal Astigmatism Between 0.75 and 1.03 Diopters (D) Completed NCT00732030 Phase 4
17 Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial Completed NCT01279031 Phase 4
18 A Prospective, Multi Center Clinical Comparison of Fellow Eyes Undergoing Lasik Using the Wavelight Allegretto Wave™ Excimer Laser in One Eye and the Amo/Visx Customvue™ or the Ladarvision 4000 Excimer Laser System in the Contralateral Eye Completed NCT00821236 Phase 4
19 A Prospective Study to Evaluate the Safety and Effectiveness of the Supracor Presbyopic Treatment Algorithm for Pseudophakic Eyes Using Lasik Completed NCT01387360 Phase 4
20 Infiltrative Events During Silicone Hydrogel Daily Contact Lens (Daily Wear Corneal Infiltrative Event (DWCIE) Study) Completed NCT00937105 Phase 4
21 Visual Outcomes After Implantation of a New Refractive Toric Multifocal Intraocular Lens Completed NCT01505816 Phase 4
22 A Prospective, Double-masked, Placebo Controlled Comparison of Topical 0.15% Ganciclovir Gel (Zirgan®) Versus 0.3% Hypromellose Gel (Genteal Gel®; Placebo) for the Treatment of Adenovirus Conjunctivitis Completed NCT01533480 Phase 4 Zirgan;genteal gel
23 A Randomised Intra-patient Comparison of Closed Loop and Plate Haptic Toric, Aspheric, Aberration Neutral, Hydrophilic Acrylic Intraocular Lenses in Patients With Bilateral Astigmatism Recruiting NCT02264457 Phase 4
24 Clinical Investigation of the Vision-R800 Device. Understanding the Value of High Precision Refractions and Lenses to Optometrists and Patients. Phase 2 Recruiting NCT04208750 Phase 4
25 Intracanalicular Dexamethasone Insert for Post-Corneal Cross-Linking Inflammation and Pain- The LINK Study Recruiting NCT04168112 Phase 4 Dextenza;Prednisolone Acetate
26 Femtosecond Laser-assisted Astigmatism Treatment (FLAAT) Active, not recruiting NCT04321226 Phase 4
27 A Prospective Eye to Eye Comparison of LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser Versus AMO Visx Wavefront-Guided Excimer Laser Active, not recruiting NCT01454843 Phase 4
28 A Prospective, Randomized Comparison of Fellow Eyes Undergoing Wavefront-guided PRK Versus Wavefront-optimized PRK Using the Alcon Allegretto Eye-Q 400 Excimer Laser Active, not recruiting NCT02091934 Phase 4
29 A Prospective Randomized Comparison of the AMO CustomVue to the Alcon Wavelight in Patients Undergoing LASIK Active, not recruiting NCT02565537 Phase 4
30 A Prospective Randomized Eye to Eye Comparison of Fellow Eyes Undergoing Lasik With the IntraLase(TM) FS Versus PRK Active, not recruiting NCT01140594 Phase 4
31 Efficacy and Safety of Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK). Not yet recruiting NCT04283331 Phase 4 Proparacaine Ophthalmic
32 Clinical Evaluation of the Toric BuunyLens TR Intra-ocular Lens Unknown status NCT01659801 Phase 3
33 A Prospective Study To Evaluate The Safety And Effectiveness Of The SUPRACOR Presbyopic Treatment Algorithm For Myopia And Myopic Astigmatism Using LASIK Unknown status NCT01404884 Phase 3
34 Intrastromal Correction of Ametropia by a Femtosecond Laser Unknown status NCT00928122 Phase 3
35 Treatment of Keratoconus Using Collagen Cross-Linking By Means of Topical Riboflavin and UV Light. Unknown status NCT00841386 Phase 2, Phase 3 Riboflavin-5-phosphate;Sham cross-linking
36 A Study Evaluating the Safety and Efficacy of the KXL System With vibeX Rapid (Riboflavin Ophthalmic Solution) for Corneal Collagen Cross-Linking in Eyes Having Keratoconus and Post LASIK Ectasia Unknown status NCT02638376 Phase 3
37 The Safety and Effectiveness of Collagen Cross Linking With Riboflavin and Ultraviolet-A Light in Progressive Mild and Moderate Grades of Keratoconus. Unknown status NCT00815256 Phase 3
38 Comparison of Cross-cylinder and Conventional PRK for Laser Correction of Astigmatism: A Randomized Clinical Trial. Completed NCT00663923 Phase 3
39 A Prospective Multicenter, Study to Evaluate the Safety and Effectiveness of the Presbyopia Algorithm for Hyperopia and Hyperopic Astigmatism Using LASIK Completed NCT00910403 Phase 3
40 The Berkeley Orthokeratology Study Completed NCT00000123 Phase 3
41 A Prospective Study of Femtosecond Laser Intracorneal Lensectomi in Treatment of Moderate to High Myopia Completed NCT01673503 Phase 3
42 Effects of Vertical Prism on the Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria: A Randomized, Double-blinded, Placebo-controlled, Cross-over Study Completed NCT00785135 Phase 3
43 A Randomized Study of Codeine Plus Paracetamol Versus Placebo for PRK Post-operative Pain Completed NCT02625753 Phase 3 Codeine;paracetamol;placebo
44 Randomized Study of Corneal Collagen Cross-Linking With the UV-X System for the Treatment of Keratectasia in Eyes With Intacs Compared to Eyes Without Intacs Enrolling by invitation NCT01081561 Phase 2, Phase 3 Riboflavin
45 Topography Guided Excimer Laser Surface Ablation in Combination With Corneal Cross-linking (CCL) in Patients With Progressive Ectatic Corneal Disorders. Terminated NCT01682993 Phase 3
46 Myoring Versus Keraring Implantation for Keratoconus Unknown status NCT01869517 Phase 2
47 A Multi-Center Prospective Study to Evaluate the Safety and Effectiveness of Arcuate Incisions Performed With the IntraLase iFS Femtosecond Laser System Completed NCT01348854 Phase 2
48 Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions Completed NCT01024855 Phase 1, Phase 2
49 Phase 1 Study of Ocular Aberrations and Visual Performance of Eyes Implanted With Three Multifocal Intra-ocular Lenses Completed NCT00876707 Phase 1, Phase 2
50 Is Non-cycloplegic Photorefraction Applicable for Screening Refractive Risk Factors of Amblyopia? Completed NCT01308307 Phase 2

Search NIH Clinical Center for Astigmatism

Cochrane evidence based reviews: astigmatism

Sources

Genetic Tests for Astigmatism

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Genetic tests related to Astigmatism:

# Genetic test Affiliating Genes
1 Astigmatism 29
Sources

Anatomical Context for Astigmatism

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MalaCards organs/tissues related to Astigmatism:

40
Eye, Endothelial, Testes, Retina, Brain, Thyroid, Skin
Sources

Publications for Astigmatism

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Articles related to Astigmatism:

(show top 50) (show all 9997)
# Title Authors PMID Year
1
Inheritance of astigmatism: evidence for a major autosomal dominant locus. 56 61
9718344 1998
2
Astigmatism in 72 twin pairs. 56 61
2805714 1989
3
Genetic analysis of indices of corneal power and corneal astigmatism in human populations with varying incidences of strabismus. 61 56
1184316 1975
4
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 54 61
17070479 2006
5
[Comparison of PKR and LASIK for the treatment of low myopia: statistic study of refractive and optic results]. 61 54
11965115 2002
6
[Accuracy and predictability of photorefractive keratectomy for astigmatism correction]. 61 54
11877233 1998
7
[Surgery in myopic astigmatism: arciform keratotomy and PKR versus PARK]. 61 54
9554138 1997
8
Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis. 61
32405572 2020
9
Decentration of a toric intraocular lens implant in a patient with simple megalocornea. 61
32551399 2020
10
Keratoconus Screening Using Values Derived From Auto-Keratometer Measurements: A Multicenter Study. 61
32114181 2020
11
Effect of corneal marking features on toric intraocular lens alignment. 61
32193779 2020
12
Curved single-plane clear corneal incision made under anterior chamber collapse by aqueous humor aspiration prevents leakage after cataract surgery. 61
32200509 2020
13
Oculoplastic considerations for refractive procedures. 61
32487809 2020
14
Multi-view deep learning for rigid gas permeable lens base curve fitting based on Pentacam images. 61
32363555 2020
15
Refractive approaches to visual rehabilitation in patients with keratoconus. 61
32487813 2020
16
Posterior Corneal Surface Changes After Pterygium Excision Surgery. 61
32251168 2020
17
Techniques of noncircular corneal transplantation. 61
32412959 2020
18
8.5/8.6-mm Excimer Laser-Assisted Penetrating Keratoplasties in a Tertiary Corneal Subspecialty Referral Center: Indications and Outcomes in 107 Eyes. 61
32265385 2020
19
Adaptive optics corrections of scintillations of Hermite-Gaussian modes in an oceanic medium. 61
32543476 2020
20
Validation of Mahajan's formula for scaling ocular higher-order aberrations by pupil size. 61
32461431 2020
21
Refractive, visual, and subjective quality of vision outcomes for very high myopia LASIK from - 10.00 to - 13.50 diopters. 61
32552787 2020
22
Comparison of Corneal Wavefront-optimized and Wavefront-guided Alcohol-assisted Photorefractive Keratectomy Using Schwind Amaris 750S Laser for Myopia. 61
32495529 2020
23
Intrastromal Lenticule Rotation for the Treatment of High Astigmatism. 61
32521030 2020
24
Keratoconus progression after intrastromal corneal ring segment implantation according to age: 5-year follow-up cohort study. 61
32562024 2020
25
Sutureless Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty Using a Bioengineered Cornea as a Viable Alternative to Human Donor Transplantation for Superficial Corneal Opacities. 61
32558727 2020
26
Long-term safety of in-the-bag implantation of a supplementary intraocular pinhole. 61
32213780 2020
27
Visual, refractive and topographic outcomes of progressive thickness intrastromal corneal ring segments for keratoconic eyes. 61
32535750 2020
28
Characterization of Tear Immunoglobulins in a Small-Cohort of Keratoconus Patients. 61
32523038 2020
29
Refractive outcomes of cataract surgery in patients receiving trabeculectomy-a comparative study of combined and sequential approaches. 61
32532540 2020
30
[Long-term experiences with corneal crosslinking in patients with progressive keratoconus at the University Eye Hospital in Tübingen, Germany]. 61
31720752 2020
31
Factors associated with improvement in vision following femtosecond astigmatic keratotomy in post keratoplasty keratoconus patients. 61
32574774 2020
32
Icare versus Goldmann in a randomised middle-aged population: The influence of central corneal thickness and refractive errors. 61
32517497 2020
33
"Harmonization" of donor and recipient tomography in corneal transplantation. 61
32553746 2020
34
Prevention and Management of Refractive Prediction Errors Following Cataract Surgery. 61
32541369 2020
35
Intracorneal ring segments followed by toric pseudoaccomodating IOL for treatment of patients with corneal ectasia and cataract. 61
32368687 2020
36
Effects on Ocular Biometrics by 0.05%, 0.025%, and 0.01% Atropine: Low-concentration Atropine for Myopia Progression (LAMP) Study. 61
32525048 2020
37
Accuracy of the Hand-held Wavefront Aberrometer in Measurement of Refractive Error. 61
32495531 2020
38
Repeatability of the Pentacam HR in various grades of keratoconus. 61
32569740 2020
39
Anterior segment parameters in Behçet's patients with ocular involvement. 61
32067151 2020
40
A new technique for fitting of tricurve rigid gas-permeable contact lens in penetrating keratoplasty eyes using Scheimpflug imaging. 61
32461429 2020
41
Randomized Clinical Trial Comparing Femtosecond LASIK and Small-Incision Lenticule Extraction. 61
31619358 2020
42
Outcomes of toric intraocular lens implantation after femtosecond laser and traditional cataract surgery. 61
32519369 2020
43
Corneal Elevation, Power, and Astigmatism to Assess Toric Orthokeratology Lenses in Moderate-to-High Astigmats. 61
32568927 2020
44
Corneal topography, anterior segment and high-order aberration assessments in children with ≥ 2 diopter astigmatism. 61
32076964 2020
45
Biometric and refractive errors evaluation in patients with neurofibromatosis type 1. 61
32515611 2020
46
Flight model characterization of the wide-field off-axis telescope for the MATS satellite. 61
32543559 2020
47
Long-Term Refractive Outcome of Small Incision Lenticule Extraction in Very High Myopia. 61
32118668 2020
48
Clinical application of bicylindric intraocular lens power calculation method. 61
32461432 2020
49
Triamcinolone acetonide for remnant lenticule identification in small incision lenticule extraction. 61
32079839 2020
50
Predicting initial base curve of the rigid contact lenses according to Javal keratometry findings in patients with keratoconus. 61
32499136 2020
Sources

Variations for Astigmatism

About this section

ClinVar genetic disease variations for Astigmatism:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 29 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18894835-20311763)copy number loss Pathogenic 523273 22:18894835-20311763
2 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225
3 GRIN2B NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn)SNV Conflicting interpretations of pathogenicity 373930 rs876661151 12:13761545-13761545 12:13608611-13608611
4 GFOD1 , MCUR1 , NOL7 , PHACTR1 , RANBP9 , RNF182 , SIRT5 , TBC1D7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)copy number gain Uncertain significance 523282 6:12536624-13968949
5 EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)SNV Uncertain significance 523415 rs1554163965 6:64431408-64431408 6:63721512-63721512
6 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu)SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754
Sources

Expression for Astigmatism

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Search GEO for disease gene expression data for Astigmatism.
Sources

Pathways for Astigmatism

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Sources

GO Terms for Astigmatism

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Biological processes related to Astigmatism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.26 VAX2 KRT12 GPR143 CACNA1F
2 phosphatidylinositol-mediated signaling GO:0048015 8.8 PLCL1 PDGFRA GPR143
Sources

Sources for Astigmatism

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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