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Microphthalmia, Isolated 3

MedGen UID:
370863
Concept ID:
C1970237
Disease or Syndrome

Professional guidelines

PubMed

Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group
Ophthalmology 2012 Feb;119(2):362-8. Epub 2011 Nov 4 doi: 10.1016/j.ophtha.2011.07.039. PMID: 22054996

Recent clinical studies

Etiology

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Galindo-Ferreiro A, Elkhamary SM, Alhammad F, AlGhafri L, AlWehaib M, Alessa D, Aldossari S, Akaishi P, Khadekar R, AlShaikh O, Schellini SA
Orbit 2019 Jun;38(3):192-198. Epub 2018 Oct 4 doi: 10.1080/01676830.2018.1521843. PMID: 30285524
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P
Br J Oral Maxillofac Surg 2013 Mar;51(2):e17-21. Epub 2012 Mar 30 doi: 10.1016/j.bjoms.2012.02.018. PMID: 22464758

Diagnosis

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J
Clin Genet 2022 May;101(5-6):494-506. Epub 2022 Feb 27 doi: 10.1111/cge.14123. PMID: 35170016
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Ergun SG, Akay GG, Ergun MA, Perçin EF
Eur J Med Genet 2017 Mar;60(3):200-204. Epub 2017 Jan 19 doi: 10.1016/j.ejmg.2017.01.007. PMID: 28111184

Therapy

Wu JF, Turak A, Zang D, Zou GA, Aisa HA
J Nat Prod 2022 Nov 25;85(11):2570-2582. Epub 2022 Nov 3 doi: 10.1021/acs.jnatprod.2c00527. PMID: 36326734
Wang W, Zhang Y, Nakashima S, Nakamura S, Wang T, Yoshikawa M, Matsuda H
J Nat Med 2019 Jun;73(3):439-449. Epub 2019 Mar 7 doi: 10.1007/s11418-018-01276-2. PMID: 30847755Free PMC Article
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
Am J Hum Genet 2012 Jan 13;90(1):40-8. Epub 2012 Jan 5 doi: 10.1016/j.ajhg.2011.11.026. PMID: 22226084Free PMC Article
Oh J, Lee MS, Yeon JT, Choi SW, Kim HS, Shim H, Lee SY, Youn BS, Yokota Y, Kim JH, Kwak HB
J Cell Physiol 2012 May;227(5):1851-60. doi: 10.1002/jcp.22913. PMID: 21732357
Weiss DI, Ziring PR, Cooper LZ
Am J Ophthalmol 1972 Mar;73(3):326-32. doi: 10.1016/0002-9394(72)90060-8. PMID: 5013246

Prognosis

Darbinian N, Darbinyan A, Sinard J, Tatevosian G, Merabova N, D'Amico F, Khader T, Bajwa A, Martirosyan D, Gawlinski AK, Pursnani R, Zhao H, Amini S, Morrison M, Goetzl L, Selzer ME
Int J Mol Sci 2022 Dec 21;24(1) doi: 10.3390/ijms24010135. PMID: 36613580Free PMC Article
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
Hakki SS, Kayis SA, Hakki EE, Bozkurt SB, Duruksu G, Unal ZS, Turaç G, Karaoz E
J Periodontol 2015 Feb;86(2):283-91. Epub 2014 Oct 17 doi: 10.1902/jop.2014.140257. PMID: 25325708
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P
Br J Oral Maxillofac Surg 2013 Mar;51(2):e17-21. Epub 2012 Mar 30 doi: 10.1016/j.bjoms.2012.02.018. PMID: 22464758

Clinical prediction guides

Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Ergun SG, Akay GG, Ergun MA, Perçin EF
Eur J Med Genet 2017 Mar;60(3):200-204. Epub 2017 Jan 19 doi: 10.1016/j.ejmg.2017.01.007. PMID: 28111184
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
Am J Hum Genet 2012 Jan 13;90(1):40-8. Epub 2012 Jan 5 doi: 10.1016/j.ajhg.2011.11.026. PMID: 22226084Free PMC Article

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