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Congenital anomaly of retina

MedGen UID:
540001
Concept ID:
C0266564
Congenital Abnormality
Synonym: Congenital malformation of retina
SNOMED CT: Congenital malformation of retina (49381001); Congenital anomaly of retina (49381001)

Professional guidelines

PubMed

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
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
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

Recent clinical studies

Etiology

Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
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
McConnachie DJ, Stow JL, Mallett AJ
Am J Kidney Dis 2021 Mar;77(3):410-419. Epub 2020 Oct 9 doi: 10.1053/j.ajkd.2020.08.012. PMID: 33039432
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
Pagon RA
Surv Ophthalmol 1981 Jan-Feb;25(4):223-36. doi: 10.1016/0039-6257(81)90092-8. PMID: 6782689

Diagnosis

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
Mirzayev I, Gündüz AK
Turk J Ophthalmol 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979. PMID: 36578224Free PMC Article
Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
Chen C, Xiao H, Ding X
Asia Pac J Ophthalmol (Phila) 2019 Jan-Feb;8(1):86-95. Epub 2018 Oct 30 doi: 10.22608/APO.201854. PMID: 30375202
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

Therapy

Shivanna M, Anand M, Chakrabarti S, Khanna H
Curr Med Chem 2019;26(17):3120-3131. doi: 10.2174/0929867325666180917102557. PMID: 30221600Free PMC Article
Moore NA, Morral N, Ciulla TA, Bracha P
Expert Opin Biol Ther 2018 Jan;18(1):37-49. Epub 2017 Oct 23 doi: 10.1080/14712598.2018.1389886. PMID: 29057663
Nagel-Wolfrum K, Baasov T, Wolfrum U
Adv Exp Med Biol 2014;801:741-7. doi: 10.1007/978-1-4614-3209-8_93. PMID: 24664766
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Martin S
Neonatal Netw 2001 Jun;20(4):23-30. doi: 10.1891/0730-0832.20.4.23. PMID: 12143899

Prognosis

Gana S, Serpieri V, Valente EM
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):72-88. Epub 2022 Mar 3 doi: 10.1002/ajmg.c.31963. PMID: 35238134Free PMC Article
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
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M
Orphanet J Rare Dis 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. PMID: 33097095Free PMC Article
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

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
Mirzayev I, Gündüz AK
Turk J Ophthalmol 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979. PMID: 36578224Free PMC Article
Pollara L, Sottile V, Valente EM
J Med Genet 2022 Jun;59(6):517-527. Epub 2022 Feb 19 doi: 10.1136/jmedgenet-2021-108315. PMID: 35184035
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

Recent systematic reviews

Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE
Ophthalmology 2024 May;131(5):622-633. Epub 2023 Dec 12 doi: 10.1016/j.ophtha.2023.12.014. PMID: 38092079
Hou X, Guo Y, Liu J, Li S, Fan W, Lin M, Rokohl AC, Heindl LM
Curr Eye Res 2021 Jul;46(7):913-918. Epub 2021 Jan 22 doi: 10.1080/02713683.2020.1853779. PMID: 33478254
Meng L, Zhao X, Zhang W, Wang D, Chen Y
Acta Ophthalmol 2021 Nov;99(7):e1176-e1189. Epub 2021 Jan 9 doi: 10.1111/aos.14730. PMID: 33421324
Zheng A, Singh RP, Lavine JA
Ophthalmol Retina 2020 Mar;4(3):289-299. Epub 2019 Nov 21 doi: 10.1016/j.oret.2019.10.011. PMID: 31937471
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

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