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Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis

MedGen UID:
865826
•Concept ID:
C4017389
•
Finding
Synonym: FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
 
OMIM®: 615585

Professional guidelines

PubMed

Myocardial Bridging: Diagnosis, Functional Assessment, and Management: JACC State-of-the-Art Review.
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
Anterior segment optical coherence tomography in pupillary seclusion diagnosis and follow-up.
Izquierdo-Serra J, Figueroa-Vercellino JP, Dotti-Boada M, Ventura-Abreu N, Pazos M
Arq Bras Oftalmol 2020 Nov-Dec;83(6):571-572. doi: 10.5935/0004-2749.20200113. PMID: 33470290
Alagille syndrome: pathogenesis, diagnosis and management.
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

Anterior segment dysgenesis: Insights into the genetics and pathogenesis.
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
Pterional Approach.
Luzzi S, Giotta Lucifero A, Bruno N, Baldoncini M, Campero A, Galzio R
Acta Biomed 2022 Mar 21;92(S4):e2021346. doi: 10.23750/abm.v92iS4.12775. PMID: 35441604Free PMC Article
Corneal Remodeling in Peters Anomaly.
Snehi S, Gupta G, Kaushik S
Ophthalmology 2021 Feb;128(2):287. doi: 10.1016/j.ophtha.2020.09.034. PMID: 33485476
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.
Chrystal PW, Walter MA
Exp Eye Res 2019 Dec;189:107815. Epub 2019 Sep 24 doi: 10.1016/j.exer.2019.107815. PMID: 31560925
Axenfeld-Rieger syndrome.
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

Diagnosis

Cardiac anomalies in Axenfeld-Rieger syndrome.
Valikodath N, Johns JA, Godown J
Cardiol Young 2023 Jul;33(7):1229-1231. Epub 2022 Dec 22 doi: 10.1017/S1047951122003857. PMID: 36543336
Axenfeld-Rieger syndrome: more than meets the eye.
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
Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.
Chrystal PW, Walter MA
Exp Eye Res 2019 Dec;189:107815. Epub 2019 Sep 24 doi: 10.1016/j.exer.2019.107815. PMID: 31560925
Alagille syndrome: pathogenesis, diagnosis and management.
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
Poland's syndrome.
Moir CR, Johnson CH
Semin Pediatr Surg 2008 Aug;17(3):161-6. doi: 10.1053/j.sempedsurg.2008.03.005. PMID: 18582821

Therapy

Anterior synechiae after penetrating keratoplasty in infants and children with Peters' anomaly.
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
Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.
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
Headache and Eye Pain in a Patient With Unusual Facial Morphology.
Frings A, Schargus M
Dtsch Arztebl Int 2018 Feb 16;115(7):116. doi: 10.3238/arztebl.2018.0116a. PMID: 29510829Free PMC Article
Treatment of Recalcitrant Cyclitic Neovascular Pupillary Membranes.
Spratt A, Blieden LS, Dubovy SR, Berrocal A, Lee RK
J Glaucoma 2017 Apr;26(4):e160-e162. doi: 10.1097/IJG.0000000000000543. PMID: 27571445
Congenital hypothyroidism in Rieger Syndrome.
Örnek N, Oğurel R, Örnek K
Ophthalmic Genet 2016;37(1):86-8. Epub 2014 Mar 25 doi: 10.3109/13816810.2014.902079. PMID: 24666291

Prognosis

Dual left anterior descending coronary artery and anomalous origin of left circumflex artery: a novel coronary anomaly revealed by CCTA.
Ratti A, Belmonte M, Paolisso P, Shumkova M, Botti G, Viscusi MM, Bertolone DT, Gallinoro E, Barbato E, Andreini D, Vanderheyden M
Int J Cardiovasc Imaging 2023 Dec;39(12):2527-2529. Epub 2023 Sep 28 doi: 10.1007/s10554-023-02958-z. PMID: 37759093
The Curious Case of Pseudo-Wellens' Syndrome and Myocardial Bridging.
Milne D, Ramadhin D, Seecheran R, Seecheran V, Henry R, Seecheran NA
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096211073255. doi: 10.1177/23247096211073255. PMID: 35038933Free PMC Article
Normal and abnormal foveal development.
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
Corneal Remodeling in Peters Anomaly.
Snehi S, Gupta G, Kaushik S
Ophthalmology 2021 Feb;128(2):287. doi: 10.1016/j.ophtha.2020.09.034. PMID: 33485476
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
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

Clinical prediction guides

Normal and abnormal foveal development.
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
The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification.
Yoshida M, Hata K, Takashima R, Ono K, Nakamura E, Takahata Y, Murakami T, Iseki S, Takano-Yamamoto T, Nishimura R, Yoneda T
Nat Commun 2015 Mar 26;6:6653. doi: 10.1038/ncomms7653. PMID: 25808752
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
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
Fox's in development and disease.
Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS
Trends Genet 2003 Jun;19(6):339-44. doi: 10.1016/S0168-9525(03)00111-2. PMID: 12801727
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

The comorbidities of recurrent inguinal hernia in children: A systematic review.
Obayashi J, Yamoto M, Fukumoto K, Furuta S, Kitagawa H
Pediatr Int 2023 Jan-Dec;65(1):e15547. doi: 10.1111/ped.15547. PMID: 37243905
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review.
Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM
Genes (Basel) 2023 Mar 17;14(3) doi: 10.3390/genes14030738. PMID: 36981008Free PMC Article
Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma.
Li X, Sun W, Xiao X, Fang L, Li S, Liu X, Zhang Q
Br J Ophthalmol 2022 Dec;106(12):1710-1715. Epub 2021 Jun 21 doi: 10.1136/bjophthalmol-2020-318668. PMID: 34154991
Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Systematic review and meta-analysis of congenitally missing permanent dentition: Sex dimorphism, occurrence patterns, associated factors and biasing factors.
Rakhshan V, Rakhshan A
Int Orthod 2016 Sep;14(3):273-94. Epub 2016 Aug 10 doi: 10.1016/j.ortho.2016.07.016. PMID: 27522615

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