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Congenital anomaly of eye

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality
Synonym: Eye abnormalities
SNOMED CT: Congenital malformation of eye (19416009); Congenital anomaly of eye (19416009); Congenital deformity of eye (19416009); Congenital abnormality of eye (19416009); Congenital anomaly of the globe (19416009); Congenital eye anomalies (19416009)

Definition

A disorder of the eye that is present at birth. Representative examples include congenital cataract, congenital glaucoma, and astigmatism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital anomaly of eye

Professional guidelines

PubMed

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Tiemstra JD, Khatkhate N
Am Fam Physician 2007 Oct 1;76(7):997-1002. PMID: 17956069

Recent clinical studies

Etiology

Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Olsen GM, Nackers A, Drolet BA
Semin Pediatr Surg 2020 Oct;29(5):150969. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150969. PMID: 33069287
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

Diagnosis

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

Therapy

Ying S, Sidoti PA, Panarelli JF
Curr Opin Ophthalmol 2023 Mar 1;34(2):162-167. Epub 2022 Nov 9 doi: 10.1097/ICU.0000000000000929. PMID: 36730733
He MY, Feng JR, Zhang L
Semin Ophthalmol 2022 Oct-Nov;37(7-8):849-855. Epub 2022 Jul 20 doi: 10.1080/08820538.2022.2102929. PMID: 35856463
Venkataraman P, Haripriya A, Mohan N, Rajendran A
Indian J Ophthalmol 2022 Jul;70(7):2262-2271. doi: 10.4103/ijo.IJO_2888_21. PMID: 35791105Free PMC Article
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Nelson LB, Maumenee IH
Surv Ophthalmol 1982 Nov-Dec;27(3):143-60. doi: 10.1016/0039-6257(82)90069-8. PMID: 6984233

Prognosis

Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Witmer MT, Margo CE, Drucker M
Surv Ophthalmol 2010 Sep-Oct;55(5):403-28. Epub 2010 Jul 10 doi: 10.1016/j.survophthal.2010.01.002. PMID: 20621322
Vajsar J, Schachter H
Orphanet J Rare Dis 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. PMID: 16887026Free PMC Article
Pagon RA
Surv Ophthalmol 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. PMID: 6782689

Clinical prediction guides

Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
Br J Ophthalmol 2022 May;106(5):593-599. Epub 2020 Nov 4 doi: 10.1136/bjophthalmol-2020-316348. PMID: 33148537
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821

Recent systematic reviews

Galor A, Britten-Jones AC, Feng Y, Ferrari G, Goldblum D, Gupta PK, Merayo-Lloves J, Na KS, Naroo SA, Nichols KK, Rocha EM, Tong L, Wang MTM, Craig JP
Ocul Surf 2023 Apr;28:262-303. Epub 2023 Apr 11 doi: 10.1016/j.jtos.2023.04.008. PMID: 37054911
LeWitt T, Tauscher R, Obiofuma G, Peterson J, Haddadin R, Kundu RV
BMC Ophthalmol 2023 Mar 27;23(1):120. doi: 10.1186/s12886-023-02777-9. PMID: 36973683Free PMC Article
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D
Int J Mol Sci 2022 Oct 19;23(20) doi: 10.3390/ijms232012564. PMID: 36293418Free PMC Article
Brouwer A, Nguyen HT, Snoek FJ, van Raalte DH, Beekman ATF, Moll AC, Bremmer MA
Acta Psychiatr Scand 2017 Dec;136(6):534-548. Epub 2017 Sep 10 doi: 10.1111/acps.12785. PMID: 28891192
Gao SY, Wu QJ, Zhang TN, Shen ZQ, Liu CX, Xu X, Ji C, Zhao YH
Br J Clin Pharmacol 2017 Oct;83(10):2134-2147. Epub 2017 Jun 10 doi: 10.1111/bcp.13321. PMID: 28513059Free PMC Article

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