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Anterior segment dysgenesis 1(ASGD1)

MedGen UID:
1631197
Concept ID:
C4551992
Disease or Syndrome
Synonyms: ASGD1; FOXE3-Related Anterior Segment Mesenchymal Dysgenesis
 
Gene (location): PITX3 (10q24.32)
 
Monarch Initiative: MONDO:0007138
OMIM®: 107250

Clinical features

From HPO
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Irido-corneo-trabecular dysgenesis
MedGen UID:
91031
Concept ID:
C0344559
Congenital Abnormality
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012).
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Posterior polar cataract
MedGen UID:
376725
Concept ID:
C1850191
Anatomical Abnormality
A polar cataract that affects the posterior pole of the lens.
Anterior segment dysgenesis
MedGen UID:
350766
Concept ID:
C1862839
Congenital Abnormality
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD1 have been reported with the Peters anomaly subtype. In its simplest form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

Professional guidelines

PubMed

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
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
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

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
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
Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK
Cornea 2022 Feb 1;41(2):219-223. doi: 10.1097/ICO.0000000000002889. PMID: 34629439
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD
Ophthalmic Genet 2021 Feb;42(1):71-74. Epub 2020 Sep 17 doi: 10.1080/13816810.2020.1821384. PMID: 32940091
Reis LM, Semina EV
Curr Opin Ophthalmol 2011 Sep;22(5):314-24. doi: 10.1097/ICU.0b013e328349412b. PMID: 21730847Free PMC Article

Diagnosis

Yang Y, Woo JH, Ali A
Cornea 2022 Nov 1;41(11):1462-1464. Epub 2022 Jul 6 doi: 10.1097/ICO.0000000000003078. PMID: 35867656
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
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
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
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

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
Ramos JL, Li Y, Huang D
Clin Exp Ophthalmol 2009 Jan;37(1):81-9. Epub 2008 Nov 5 doi: 10.1111/j.1442-9071.2008.01823.x. PMID: 19016809Free PMC Article
Young TL
Curr Opin Ophthalmol 2003 Oct;14(5):296-303. doi: 10.1097/00055735-200310000-00011. PMID: 14502058
Cook CS
Ophthalmic Paediatr Genet 1989 Mar;10(1):33-46. doi: 10.3109/13816818909083771. PMID: 2662095

Prognosis

Douglas E
Can Vet J 2022 Apr;63(4):435-438. PMID: 35368399Free 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
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
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
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD
Ophthalmic Genet 2021 Feb;42(1):71-74. Epub 2020 Sep 17 doi: 10.1080/13816810.2020.1821384. PMID: 32940091

Clinical prediction guides

Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK
Cornea 2022 Feb 1;41(2):219-223. doi: 10.1097/ICO.0000000000002889. PMID: 34629439
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
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
Gus PI, Donis KC, Marinho D, Martins TF, de Souza CFM, Carloto RB, Leivas G, Schwartz IVD
Ophthalmic Genet 2021 Feb;42(1):71-74. Epub 2020 Sep 17 doi: 10.1080/13816810.2020.1821384. PMID: 32940091
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

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
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

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