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Betamethasone FDA Label
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Cortisone acetate FDA Label
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Dexamethasone FDA Label
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Hydrocortisone FDA Label
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Methylprednisolone FDA Label
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Prednisolone FDA Label
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Triamcinolone FDA Label
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Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.J Biol Chem. 2015 Aug 7;290(32):19743-55. doi: 10.1074/jbc.M115.647685. Epub 2015 Jun 19.
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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22.
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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Hum Mol Genet. 2014 Mar 15;23(6):1538-50. doi: 10.1093/hmg/ddt541. Epub 2013 Oct 26.
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Chitinase levels in the tears of subjects with ocular allergies.Cornea. 2008 Feb;27(2):168-73. doi: 10.1097/ICO.0b013e318159a950.
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AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects.Front Neurosci. 2017 May 24;11:292. doi: 10.3389/fnins.2017.00292. eCollection 2017.
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Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Eur J Hum Genet. 2014 Jul;22(7):907-15. doi: 10.1038/ejhg.2013.268. Epub 2013 Nov 27.
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RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.Acta Ophthalmol. 2020 Mar;98(2):e181-e190. doi: 10.1111/aos.14181. Epub 2019 Jul 5.
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RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?.Expert Opin Ther Targets. 2009 Oct;13(10):1239-51. doi: 10.1517/14728220903225016.
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Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.Mol Vis. 2010 Apr 28;16:768-73.
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Genetic background-dependent role of Egr1 for eyelid development.Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):E7131-E7139. doi: 10.1073/pnas.1705848114. Epub 2017 Aug 4.
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Aldo-Keto Reductases: Multifunctional Proteins as Therapeutic Targets in Diabetes and Inflammatory Disease.Adv Exp Med Biol. 2018;1032:173-202. doi: 10.1007/978-3-319-98788-0_13.
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Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6617-22. doi: 10.1073/pnas.0401529101. Epub 2004 Apr 16.
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Genetic Polymorphisms of CFH and ARMS2 Do Not Predict Response to Antioxidants and Zinc in Patients with Age-Related Macular Degeneration: Independent Statistical Evaluations of Data from the Age-Related Eye Disease Study.Ophthalmology. 2018 Mar;125(3):391-397. doi: 10.1016/j.ophtha.2017.09.008. Epub 2017 Oct 9.
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REP1 inhibits FOXO3-mediated apoptosis to promote cancer cell survival.Cell Death Dis. 2017 Jan 5;8(1):e2536. doi: 10.1038/cddis.2016.462.
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Differential occurrence of mutations causative of eye diseases in the Chinese population.Hum Mutat. 2002 Mar;19(3):189-208. doi: 10.1002/humu.10053.
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Soluble CTLA-4 receptor an immunological marker of Graves' disease and severity of ophthalmopathy is associated with CTLA-4 Jo31 and CT60 gene polymorphisms.Eur J Endocrinol. 2009 Nov;161(5):787-93. doi: 10.1530/EJE-09-0600. Epub 2009 Sep 4.
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Genomic organization of human DLG4, the gene encoding postsynaptic density 95.J Neurochem. 1999 Dec;73(6):2250-65. doi: 10.1046/j.1471-4159.1999.0732250.x.
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GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.Am J Hum Genet. 2019 Mar 7;104(3):503-519. doi: 10.1016/j.ajhg.2019.01.017. Epub 2019 Feb 28.
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Discovery of curcumin inspired sulfonamide derivatives as a new class of carbonic anhydrase isoforms I, II, IX, and XII inhibitors.J Enzyme Inhib Med Chem. 2017 Dec;32(1):1274-1281. doi: 10.1080/14756366.2017.1380638.
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Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.Genet Test Mol Biomarkers. 2017 Dec;21(12):742-746. doi: 10.1089/gtmb.2017.0118. Epub 2017 Nov 13.
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A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.Hum Genet. 1992 Nov;90(3):305-7. doi: 10.1007/BF00220086.
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A Two-Week, Randomized, Double-masked Study to Evaluate Safety and Efficacy of Lubricin (150g/mL) Eye Drops Versus Sodium Hyaluronate (HA) 0.18% Eye Drops (Vismed) in Patients with Moderate Dry Eye Disease.Ocul Surf. 2017 Jan;15(1):77-87. doi: 10.1016/j.jtos.2016.08.004. Epub 2016 Sep 8.
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Association of BTG2, CYR61, ZFP36, and SCD gene polymorphisms with Graves' disease and ophthalmopathy.Thyroid. 2014 Jul;24(7):1156-61. doi: 10.1089/thy.2013.0654. Epub 2014 Jun 3.
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Development of Potent, Selective SRPK1 Inhibitors as Potential Topical Therapeutics for Neovascular Eye Disease.ACS Chem Biol. 2017 Mar 17;12(3):825-832. doi: 10.1021/acschembio.6b01048. Epub 2017 Feb 6.
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A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only.Exp Eye Res. 2018 Apr;169:13-19. doi: 10.1016/j.exer.2018.01.017. Epub 2018 Feb 3.
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Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.Br J Ophthalmol. 2014 Dec;98(12):1718-23. doi: 10.1136/bjophthalmol-2014-305231. Epub 2014 Aug 4.
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Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.J Biol Chem. 2001 Dec 28;276(52):49251-7. doi: 10.1074/jbc.M107337200. Epub 2001 Oct 23.
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Cytochrome P450 Oxidase 2C Inhibition Adds to -3 Long-Chain Polyunsaturated Fatty Acids Protection Against Retinal and Choroidal Neovascularization.Arterioscler Thromb Vasc Biol. 2016 Sep;36(9):1919-27. doi: 10.1161/ATVBAHA.116.307558. Epub 2016 Jul 14.
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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.Eur J Hum Genet. 2011 Jan;19(1):115-7. doi: 10.1038/ejhg.2010.132. Epub 2010 Aug 11.
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pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation.Cell Signal. 2015 Nov;27(11):2314-23. doi: 10.1016/j.cellsig.2015.08.011. Epub 2015 Aug 18.
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Gene therapy into photoreceptors and Mller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models.Hum Mol Genet. 2015 Jun 1;24(11):3104-18. doi: 10.1093/hmg/ddv062. Epub 2015 Feb 20.
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Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.Exp Eye Res. 2019 Dec;189:107846. doi: 10.1016/j.exer.2019.107846. Epub 2019 Oct 15.
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A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.Mol Vis. 2009;15:810-4. Epub 2009 Apr 22.
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Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.Br J Ophthalmol. 2013 Feb;97(2):169-73. doi: 10.1136/bjophthalmol-2012-302355. Epub 2012 Nov 10.
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How does a protein's structure spell the difference between health and disease? Our journey to understand glaucoma-associated myocilin.PLoS Biol. 2019 Apr 22;17(4):e3000237. doi: 10.1371/journal.pbio.3000237. eCollection 2019 Apr.
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A novel missense mutation in the NYX gene associated with high myopia.Ophthalmic Physiol Opt. 2013 May;33(3):346-53. doi: 10.1111/opo.12036. Epub 2013 Feb 14.
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Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene.Cytogenet Cell Genet. 2000;90(3-4):261-7. doi: 10.1159/000056785.
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Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A.Br J Ophthalmol. 2020 Apr;104(4):480-486. doi: 10.1136/bjophthalmol-2019-314243. Epub 2019 Jul 2.
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Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma.Mol Med Rep. 2017 Sep;16(3):2505-2510. doi: 10.3892/mmr.2017.6887. Epub 2017 Jun 29.
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15.
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Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2509-21. doi: 10.1167/iovs.15-18680.
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Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.Ophthalmic Genet. 2011 Sep;32(3):151-5. doi: 10.3109/13816810.2011.559650. Epub 2011 Mar 15.
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The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16.
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Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.DNA Cell Biol. 2014 Dec;33(12):876-83. doi: 10.1089/dna.2014.2554.
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Functional roles of bestrophins in ocular epithelia.Prog Retin Eye Res. 2009 May;28(3):206-26. doi: 10.1016/j.preteyeres.2009.04.004. Epub 2009 May 4.
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The cardiac calsequestrin gene (CASQ2) is up-regulated in the thyroid in patients with Graves' ophthalmopathy--support for a role of autoimmunity against calsequestrin as the triggering event.Clin Endocrinol (Oxf). 2010 Oct;73(4):522-8. doi: 10.1111/j.1365-2265.2009.03753.x.
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Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes.Genomics. 1998 Nov 15;54(1):140-4. doi: 10.1006/geno.1998.5547.
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A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15.
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CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection. Hum Mol Genet. 2019 Jun 15;28(12):1959-1970. doi: 10.1093/hmg/ddz029.
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The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.BMC Med Genet. 2019 Sep 5;20(1):153. doi: 10.1186/s12881-019-0882-z.
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NAP modulates hyperglycemic-inflammatory event of diabetic retina by counteracting outer blood retinal barrier damage.J Cell Physiol. 2019 Apr;234(4):5230-5240. doi: 10.1002/jcp.27331. Epub 2018 Oct 30.
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Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1).Hum Genet. 1999 Jan;104(1):99-105. doi: 10.1007/s004390050917.
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(99)Tc(m)-octreotide scintigraphy and serum eye muscle antibodies in evaluation of active thyroid-associated ophthalmopathy.Eye (Lond). 2017 May;31(5):668-676. doi: 10.1038/eye.2017.42. Epub 2017 Apr 7.
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PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON HIPPEL-LINDAU EYE DISEASE.Retina. 2016 Feb;36(2):325-34. doi: 10.1097/IAE.0000000000000707.
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Analysis of FOXD3 sequence variation in human ocular disease.Mol Vis. 2012;18:1740-9. Epub 2012 Jun 27.
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Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17.
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11.
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Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17.
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Conjunctival Inflammatory Gene Expression Profiling in Dry Eye Disease: Correlations With HLA-DRA and HLA-DRB1.Front Immunol. 2018 Oct 15;9:2271. doi: 10.3389/fimmu.2018.02271. eCollection 2018.
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Absence of Signal Peptide Peptidase, an Essential Herpes Simplex Virus 1 Glycoprotein K Binding Partner, Reduces Virus Infectivity In Vivo.J Virol. 2019 Nov 13;93(23):e01309-19. doi: 10.1128/JVI.01309-19. Print 2019 Dec 1.
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Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A. 2010 Dec 28;107(52):22671-6. doi: 10.1073/pnas.1009437108. Epub 2010 Dec 8.
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Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13.
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Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.Dev Biol. 2013 May 1;377(1):55-66. doi: 10.1016/j.ydbio.2013.02.015. Epub 2013 Feb 27.
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The iridocyclitis of early onset pauciarticular juvenile rheumatoid arthritis: outcome in immunogenetically characterized patients.J Rheumatol. 1992 Jan;19(1):160-3.
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A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.Ophthalmic Genet. 2018 Jun;39(3):396-398. doi: 10.1080/13816810.2018.1443342. Epub 2018 Apr 4.
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MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.Mol Vis. 2009 Jul 28;15:1445-8.
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From eyeless to neurological diseases.Exp Eye Res. 2017 Mar;156:5-9. doi: 10.1016/j.exer.2015.11.006. Epub 2015 Nov 22.
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Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy.Clin Endocrinol (Oxf). 2007 Nov;67(5):663-7. doi: 10.1111/j.1365-2265.2007.02942.x. Epub 2007 Jul 3.
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Targeted Multifunctional Lipid ECO Plasmid DNA Nanoparticles as Efficient Non-viral Gene Therapy for Leber's Congenital Amaurosis.Mol Ther Nucleic Acids. 2017 Jun 16;7:42-52. doi: 10.1016/j.omtn.2017.02.005. Epub 2017 Feb 28.
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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10.
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Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. J Med Genet. 2006 Apr;43(4):378-81. doi: 10.1136/jmg.2005.035055. Epub 2005 Sep 30.
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Our experience with smartphone and spherical lens for the eye fundus examination during humanitarian project in Africa.Int J Ophthalmol. 2017 Jan 18;10(1):157-160. doi: 10.18240/ijo.2017.01.25. eCollection 2017.
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Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.Graefes Arch Clin Exp Ophthalmol. 2019 Nov;257(11):2401-2427. doi: 10.1007/s00417-019-04462-4. Epub 2019 Sep 16.
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MicroRNA-145 Regulates Pathological Retinal Angiogenesis by Suppression of TMOD3.Mol Ther Nucleic Acids. 2019 Jun 7;16:335-347. doi: 10.1016/j.omtn.2019.03.001. Epub 2019 Mar 21.
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Mutation analysis of B3GALTL in Peters Plus syndrome.Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498.
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Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.Clin Dysmorphol. 2008 Jul;17(3):225-226. doi: 10.1097/MCD.0b013e3282fe1b8e.
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Familial exudative vitreoretinopathy presentation as persistent fetal vasculature.Am J Ophthalmol Case Rep. 2017 Jun;6:15-17. doi: 10.1016/j.ajoc.2017.01.001. Epub 2017 Feb 2.
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Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Hum Genet. 2017 Jan;136(1):119-127. doi: 10.1007/s00439-016-1745-8. Epub 2016 Nov 14.
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Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.J Biol Chem. 2015 Apr 17;290(16):10242-55. doi: 10.1074/jbc.M114.611921. Epub 2015 Mar 4.
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Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.Mamm Genome. 2010 Feb;21(1-2):13-27. doi: 10.1007/s00335-009-9235-0. Epub 2009 Dec 22.
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Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.J Med Genet. 2005 May;42(5):436-8. doi: 10.1136/jmg.2004.024281.
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Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.PLoS One. 2011;6(6):e21379. doi: 10.1371/journal.pone.0021379. Epub 2011 Jun 27.
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