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Foveal hypoplasia 1 with or without anterior segment anomalies

MedGen UID:
866094
Concept ID:
C4017657
Finding
Synonym: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
 
OMIM®: 607108

Professional guidelines

PubMed

Sternheim D, Power DA, Samtani R, Kini A, Fuster V, Sharma S
J Am Coll Cardiol 2021 Nov 30;78(22):2196-2212. doi: 10.1016/j.jacc.2021.09.859. PMID: 34823663
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
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article

Recent clinical studies

Etiology

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Kaushik S, Dubey S, Choudhary S, Ratna R, Pandav SS, Khan AO
Indian J Ophthalmol 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21. PMID: 35791109Free PMC Article
Prem Senthil M, Knight LSW, Taranath D, Mackey DA, Ruddle JB, Chiang MY, Siggs OM, Souzeau E, Craig JE
Cornea 2022 Aug 1;41(8):1009-1015. Epub 2022 Mar 30 doi: 10.1097/ICO.0000000000003020. PMID: 35354164Free PMC Article
Michl P, Broniš T, Jurásková Sedlatá E, Heinz P, Pink R, Šebek J, Mottl R, Dvořák Z, Tvrdý P
Acta Chir Plast 2021 Winter;63(4):181-184. doi: 10.48095/ccachp2021181. PMID: 35042361
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

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
Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
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
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article

Therapy

Narayanan S, Joseph S, Varghese AC, Nair RG, Mohan H, Edger D, Sudhakar A
Acta Cardiol 2023 Oct;78(8):894-900. Epub 2023 Mar 20 doi: 10.1080/00015385.2023.2187117. PMID: 36939314
Yang Y, Xiang J, Xu J
BMC Ophthalmol 2022 Jun 9;22(1):259. doi: 10.1186/s12886-022-02473-0. PMID: 35681142Free PMC Article
Magan T, Tanner A, Fajardo-Sanchez J, Lim KS, Goyal S, Rodrigues I, Amaya L, Trikha S, Kulkarni A, Hammond C, Lascaratos G, Yu-Wai-Man C
Eur J Ophthalmol 2022 Sep;32(5):2920-2927. Epub 2022 Jan 10 doi: 10.1177/11206721211073208. PMID: 35001688Free PMC Article
Braun J
Adv Exp Med Biol 2009;649:133-47. doi: 10.1007/978-1-4419-0298-6_10. PMID: 19731626
Cameron JA
Cornea 1993 Mar;12(2):124-30. doi: 10.1097/00003226-199303000-00006. PMID: 8500319

Prognosis

Yang Y, Xiang J, Xu J
BMC Ophthalmol 2022 Jun 9;22(1):259. doi: 10.1186/s12886-022-02473-0. PMID: 35681142Free PMC Article
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
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
Michl P, Broniš T, Jurásková Sedlatá E, Heinz P, Pink R, Šebek J, Mottl R, Dvořák Z, Tvrdý P
Acta Chir Plast 2021 Winter;63(4):181-184. doi: 10.48095/ccachp2021181. PMID: 35042361

Clinical prediction guides

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Kuht HJ, Thomas MG, McLean RJ, Sheth V, Proudlock FA, Gottlob I
Br J Ophthalmol 2023 Aug;107(8):1202-1208. Epub 2022 Apr 4 doi: 10.1136/bjophthalmol-2020-318192. PMID: 35379600Free PMC Article
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free 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
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

Taksande A, Jameel PZ, Taksande B, Meshram R
Indian J Ophthalmol 2021 Aug;69(8):1994-2003. doi: 10.4103/ijo.IJO_3632_20. PMID: 34304165Free PMC Article
Alexander JL, Wei L, Palmer J, Darras A, Levin MR, Berry JL, Ludeman E
Eye (Lond) 2021 Jan;35(1):265-276. Epub 2020 Sep 22 doi: 10.1038/s41433-020-01184-4. PMID: 32963311Free PMC Article
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article
Hanak BW, Zada G, Nayar VV, Thiex R, Du R, Day AL, Laws ER
J Neurosurg 2012 Jan;116(1):164-78. Epub 2011 Nov 4 doi: 10.3171/2011.9.JNS11380. PMID: 22054212
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
Mol Vis 2011;17:1624-40. Epub 2011 Jun 17 PMID: 21738392Free PMC Article

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