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ANTERIOR SEGMENT DYSGENESIS 5(ASGD5)

MedGen UID:
934776
•Concept ID:
C4310809
•
Disease or Syndrome
Synonym: ASGD5
 
OMIM®: 604229

Professional guidelines

PubMed

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680
Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment.
Fariña R, Lolas J, Moreno E, Alister JP, Uribe MF, Pantoja R, Valladares S, Arrué C
J Craniofac Surg 2022 Mar-Apr 01;33(2):496-501. doi: 10.1097/SCS.0000000000007973. PMID: 34261964
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E, Clayton-Smith J, Douzgou S, Ramsden SC, Ingram S, Hall G, Hardcastle CL, Fletcher TA, Taylor RL, Ellingford JM, Newman WD, Fenerty C, Sharma V, Lloyd IC, Biswas S, Ashworth JL, Black GC, Sergouniotis PI
Genet Med 2020 Apr;22(4):745-751. Epub 2019 Dec 18 doi: 10.1038/s41436-019-0722-8. PMID: 31848469Free PMC Article

Recent clinical studies

Etiology

Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities.
Yu T, Dai Z, Peng R, Xiao G, Zhang P, Ma S, Hong J
BMC Ophthalmol 2022 Dec 28;22(1):514. doi: 10.1186/s12886-022-02754-8. PMID: 36577962Free 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
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Congenital corneal anesthesia.
Ramappa M, Chaurasia S, Chakrabarti S, Kaur I
J AAPOS 2014 Oct;18(5):427-32. Epub 2014 Oct 21 doi: 10.1016/j.jaapos.2014.05.011. PMID: 25439301
Genetics of anterior segment dysgenesis disorders.
Reis LM, Semina EV
Curr Opin Ophthalmol 2011 Sep;22(5):314-24. doi: 10.1097/ICU.0b013e328349412b. PMID: 21730847Free PMC Article

Diagnosis

Pre- and Post-Surgical Microspherophakia Anterior-Segment OCT.
de Saint Sauveur G, Chapron T, Caputo G
Ophthalmol Glaucoma 2022 Jan-Feb;5(1):31. doi: 10.1016/j.ogla.2021.09.011. PMID: 35067278
Peter's anomaly-A homeotic gene disorder.
Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free 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
Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review.
Ong APC, Zhang J, Vincent AL, McGhee CNJ
Clin Exp Ophthalmol 2021 Jul;49(5):477-497. Epub 2021 Jun 27 doi: 10.1111/ceo.13958. PMID: 34114333

Therapy

Clinical and angiographic features of SCAD type 4.
Mori R, Macaya F, Giacobbe F, Salinas P, Rolfo C, Porto I, Gonzalo N, Varbella F, Cerrato E, Escaned J
Int J Cardiol 2023 Apr 15;377:22-25. Epub 2023 Jan 27 doi: 10.1016/j.ijcard.2023.01.067. PMID: 36716971
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
Early Predictors of Long-term Outcomes in Childhood Glaucoma.
Chang TC, Cavuoto KM, Grajewski AL, Hodapp EA, Vanner EA
J Glaucoma 2018 Dec;27(12):1094-1098. doi: 10.1097/IJG.0000000000001031. PMID: 30059407
Ophthalmic genetics/inherited eye disease.
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058

Prognosis

Peter's anomaly-A homeotic gene disorder.
Kylat RI
Acta Paediatr 2022 May;111(5):948-951. Epub 2022 Jan 31 doi: 10.1111/apa.16260. PMID: 35044009
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
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free 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
Lumbar hemivertebra resection.
Bollini G, Docquier PL, Viehweger E, Launay F, Jouve JL
J Bone Joint Surg Am 2006 May;88(5):1043-52. doi: 10.2106/JBJS.E.00530. PMID: 16651579

Clinical prediction guides

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q
Invest Ophthalmol Vis Sci 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. PMID: 36892533Free PMC Article
Clinical and angiographic features of SCAD type 4.
Mori R, Macaya F, Giacobbe F, Salinas P, Rolfo C, Porto I, Gonzalo N, Varbella F, Cerrato E, Escaned J
Int J Cardiol 2023 Apr 15;377:22-25. Epub 2023 Jan 27 doi: 10.1016/j.ijcard.2023.01.067. PMID: 36716971
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680
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
Cervical disc arthroplasty for Klippel-Feil syndrome.
Lee CY, Wu CL, Chang HK, Wu JC, Huang WC, Cheng H, Tu TH
Clin Neurol Neurosurg 2021 Oct;209:106934. Epub 2021 Sep 3 doi: 10.1016/j.clineuro.2021.106934. PMID: 34543827

Recent systematic reviews

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011
Operative management of idiopathic spinal intradural arachnoid cysts in children: a systematic review.
Evangelou P, Meixensberger J, Bernhard M, Hirsch W, Kiess W, Merkenschlager A, Nestler U, Preuss M
Childs Nerv Syst 2013 Apr;29(4):657-64. Epub 2012 Dec 9 doi: 10.1007/s00381-012-1990-7. PMID: 23224408

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