U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

VSX2-related Microphthalmia

MedGen UID:
893389
Concept ID:
CN239429
Disease or Syndrome

Professional guidelines

PubMed

Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2559-2563. doi: 10.4103/ijo.IJO_2627_21. PMID: 35791156Free PMC Article
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N
Clin Genet 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. PMID: 29136273
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364

Recent clinical studies

Etiology

Tang J, Baba M
Genes (Basel) 2023 Jan 5;14(1) doi: 10.3390/genes14010151. PMID: 36672892Free PMC Article
Ostrowski SM, Fisher DE
Hematol Oncol Clin North Am 2021 Feb;35(1):29-56. Epub 2020 Oct 26 doi: 10.1016/j.hoc.2020.08.010. PMID: 33759772
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S
Eye (Lond) 2021 Aug;35(8):2086-2109. Epub 2021 Mar 21 doi: 10.1038/s41433-021-01501-5. PMID: 33746210Free PMC Article
Yardman-Frank JM, Fisher DE
Exp Dermatol 2021 Apr;30(4):560-571. Epub 2020 Dec 24 doi: 10.1111/exd.14260. PMID: 33320376Free PMC Article
Toussi A, Mans N, Welborn J, Kiuru M
J Cutan Pathol 2020 Jul;47(7):606-616. Epub 2020 May 11 doi: 10.1111/cup.13689. PMID: 32249949Free PMC Article

Diagnosis

Salsi V, Magdinier F, Tupler R
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030258. PMID: 32121044Free PMC Article
Society for Maternal-Fetal Medicine, Benacerraf BR, Bromley B, Jelin AC
Am J Obstet Gynecol 2019 Nov;221(5):B20-B21. doi: 10.1016/j.ajog.2019.08.054. PMID: 31679591
Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK
Hum Genet 2019 Sep;138(8-9):799-830. Epub 2019 Feb 14 doi: 10.1007/s00439-019-01977-y. PMID: 30762128
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article
Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E
Surv Ophthalmol 2000 Nov-Dec;45(3):175-94. doi: 10.1016/s0039-6257(00)00151-x. PMID: 11094243

Therapy

Santasusagna S, Zhu S, Jawalagatti V, Carceles-Cordon M, Ertel A, Garcia-Longarte S, Song WM, Fujiwara N, Li P, Mendizabal I, Petrylak DP, Kelly WK, Reddy EP, Wang L, Schiewer MJ, Lujambio A, Karnes J, Knudsen KE, Cordon-Cardo C, Dong H, Huang H, Carracedo A, Hoshida Y, Rodriguez-Bravo V, Domingo-Domenech J
Cancer Discov 2023 Dec 12;13(12):2584-2609. doi: 10.1158/2159-8290.CD-23-0306. PMID: 37676710Free PMC Article
Bakouny Z, Sadagopan A, Ravi P, Metaferia NY, Li J, AbuHammad S, Tang S, Denize T, Garner ER, Gao X, Braun DA, Hirsch L, Steinharter JA, Bouchard G, Walton E, West D, Labaki C, Dudani S, Gan CL, Sethunath V, Carvalho FLF, Imamovic A, Ricker C, Vokes NI, Nyman J, Berchuck JE, Park J, Hirsch MS, Haq R, Mary Lee GS, McGregor BA, Chang SL, Feldman AS, Wu CJ, McDermott DF, Heng DYC, Signoretti S, Van Allen EM, Choueiri TK, Viswanathan SR
Cell Rep 2022 Jan 4;38(1):110190. doi: 10.1016/j.celrep.2021.110190. PMID: 34986355Free PMC Article
Ostrowski SM, Fisher DE
Hematol Oncol Clin North Am 2021 Feb;35(1):29-56. Epub 2020 Oct 26 doi: 10.1016/j.hoc.2020.08.010. PMID: 33759772
Kaur A, Webster MR, Marchbank K, Behera R, Ndoye A, Kugel CH 3rd, Dang VM, Appleton J, O'Connell MP, Cheng P, Valiga AA, Morissette R, McDonnell NB, Ferrucci L, Kossenkov AV, Meeth K, Tang HY, Yin X, Wood WH 3rd, Lehrmann E, Becker KG, Flaherty KT, Frederick DT, Wargo JA, Cooper ZA, Tetzlaff MT, Hudgens C, Aird KM, Zhang R, Xu X, Liu Q, Bartlett E, Karakousis G, Eroglu Z, Lo RS, Chan M, Menzies AM, Long GV, Johnson DB, Sosman J, Schilling B, Schadendorf D, Speicher DW, Bosenberg M, Ribas A, Weeraratna AT
Nature 2016 Apr 14;532(7598):250-4. Epub 2016 Apr 4 doi: 10.1038/nature17392. PMID: 27042933Free PMC Article
Miller AJ, Mihm MC Jr
N Engl J Med 2006 Jul 6;355(1):51-65. doi: 10.1056/NEJMra052166. PMID: 16822996

Prognosis

Liu J, Ma P, Lai L, Villanueva A, Koenig A, Bean GR, Bowles DE, Glass C, Watson M, Lavine KJ, Lin CY
Circ Res 2022 Sep 30;131(8):654-669. Epub 2022 Sep 16 doi: 10.1161/CIRCRESAHA.121.320449. PMID: 36111531Free PMC Article
Papazoglou A, Huang M, Bulik M, Lafyatis A, Tabib T, Morse C, Sembrat J, Rojas M, Valenzi E, Lafyatis R
Arthritis Rheumatol 2022 Dec;74(12):2003-2014. Epub 2022 Oct 31 doi: 10.1002/art.42286. PMID: 35849803Free PMC Article
Society for Maternal-Fetal Medicine, Benacerraf BR, Bromley B, Jelin AC
Am J Obstet Gynecol 2019 Nov;221(5):B20-B21. doi: 10.1016/j.ajog.2019.08.054. PMID: 31679591
Kaur A, Webster MR, Marchbank K, Behera R, Ndoye A, Kugel CH 3rd, Dang VM, Appleton J, O'Connell MP, Cheng P, Valiga AA, Morissette R, McDonnell NB, Ferrucci L, Kossenkov AV, Meeth K, Tang HY, Yin X, Wood WH 3rd, Lehrmann E, Becker KG, Flaherty KT, Frederick DT, Wargo JA, Cooper ZA, Tetzlaff MT, Hudgens C, Aird KM, Zhang R, Xu X, Liu Q, Bartlett E, Karakousis G, Eroglu Z, Lo RS, Chan M, Menzies AM, Long GV, Johnson DB, Sosman J, Schilling B, Schadendorf D, Speicher DW, Bosenberg M, Ribas A, Weeraratna AT
Nature 2016 Apr 14;532(7598):250-4. Epub 2016 Apr 4 doi: 10.1038/nature17392. PMID: 27042933Free PMC Article
Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E
Surv Ophthalmol 2000 Nov-Dec;45(3):175-94. doi: 10.1016/s0039-6257(00)00151-x. PMID: 11094243

Clinical prediction guides

Liu J, Ma P, Lai L, Villanueva A, Koenig A, Bean GR, Bowles DE, Glass C, Watson M, Lavine KJ, Lin CY
Circ Res 2022 Sep 30;131(8):654-669. Epub 2022 Sep 16 doi: 10.1161/CIRCRESAHA.121.320449. PMID: 36111531Free PMC Article
Salles DC, Asrani K, Woo J, Vidotto T, Liu HB, Vidal I, Matoso A, Netto GJ, Argani P, Lotan TL
J Pathol 2022 Jun;257(2):158-171. Epub 2022 Mar 29 doi: 10.1002/path.5875. PMID: 35072947Free PMC Article
Hushcha Y, Blo I, Oton-Gonzalez L, Mauro GD, Martini F, Tognon M, Mattei M
Int J Mol Sci 2021 Jun 5;22(11) doi: 10.3390/ijms22116104. PMID: 34198907Free PMC Article
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Recent systematic reviews

Tsang TW, Finlay-Jones A, Perry K, Grigg JR, Popova S, Cheung MMY, Bower C, Tam P, Jamieson RV, Elliott EJ
Ophthalmic Epidemiol 2023 Aug;30(4):340-351. Epub 2022 Sep 14 doi: 10.1080/09286586.2022.2123004. PMID: 36102703
Feng D, Fang Z, Zhang P
Phytomedicine 2022 Dec;107:154449. Epub 2022 Sep 6 doi: 10.1016/j.phymed.2022.154449. PMID: 36126406
Haghighi MM, Wright CY, Ayer J, Urban MF, Pham MD, Boeckmann M, Areal A, Wernecke B, Swift CP, Robinson M, Hetem RS, Chersich MF, Climate Change And Heat-Health Study Group
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094910. PMID: 34063033Free PMC Article
Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ
Int J Oral Maxillofac Surg 2020 Sep;49(9):1107-1114. Epub 2020 Mar 23 doi: 10.1016/j.ijom.2020.03.003. PMID: 32217034
Marques VM, Santos CS, Santiago IG, Marques SM, Nunes Brasil MDG, Lima TT, Costa PS
Pediatr Neurol 2019 Feb;91:3-10. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.003. PMID: 30591235

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...