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Ocular anterior segment dysgenesis(ASMD; ASOD)

MedGen UID:
350766
Concept ID:
C1862839
Congenital Abnormality
Synonym: Anterior segment dysgenesis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: CPAMD8, PXDN, PITX3, PITX2, PAX6, FOXE3, FOXC1, CYP1B1
 
HPO: HP:0007700
Monarch Initiative: MONDO:0019503
OMIM®: 107250
OMIM® Phenotypic series: PS107250
Orphanet: ORPHA88632

Definition

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). [from OMIM]

Conditions with this feature

Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
MedGen UID:
316973
Concept ID:
C1832362
Disease or Syndrome
A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.
Lambotte syndrome
MedGen UID:
343380
Concept ID:
C1855550
Disease or Syndrome
Brachydactyly, coloboma, and anterior segment dysgenesis
MedGen UID:
355321
Concept ID:
C1864901
Disease or Syndrome
Chromosome 6pter-p24 deletion syndrome
MedGen UID:
393396
Concept ID:
C2675486
Disease or Syndrome
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Oculoauricular syndrome
MedGen UID:
393758
Concept ID:
C2677500
Disease or Syndrome
Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).
Anterior segment dysgenesis 7
MedGen UID:
462967
Concept ID:
C3151617
Disease or Syndrome
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). In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012). Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).
Craniofacial anomalies and anterior segment dysgenesis syndrome
MedGen UID:
481729
Concept ID:
C3280099
Disease or Syndrome
Microphthalmia, isolated, with coloboma 9
MedGen UID:
767506
Concept ID:
C3554592
Disease or Syndrome
MCOPCB9 is characterized by microphthalmia and coloboma (Aldahmesh et al., 2012). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis (Chassaing et al., 2016; Stephen et al., 2018; Singh et al., 2019). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345). For a discussion of genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800).
Anterior segment dysgenesis 1
MedGen UID:
1631197
Concept ID:
C4551992
Disease or Syndrome

Professional guidelines

PubMed

Mezad-Koursh D, Rosenfeld E, Bachar Zipori A, Zur D, Elhanan E, Ben-Shachar S
Eur J Hum Genet 2023 Jan;31(1):125-127. Epub 2022 Oct 20 doi: 10.1038/s41431-022-01195-7. PMID: 36261622Free PMC Article
Ma AS, Grigg JR, Jamieson RV
Hum Genet 2019 Sep;138(8-9):899-915. Epub 2018 Sep 21 doi: 10.1007/s00439-018-1935-7. PMID: 30242500

Recent clinical studies

Etiology

Rraku E, Kerstjens-Frederikse WS, Swertz MA, Dijkhuizen T, van Ravenswaaij-Arts CMA, Engwerda A
Orphanet J Rare Dis 2023 Mar 24;18(1):68. doi: 10.1186/s13023-023-02670-0. PMID: 36964621Free PMC Article
Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE
Ophthalmology 2020 Jun;127(6):758-766. Epub 2020 Jan 7 doi: 10.1016/j.ophtha.2019.12.024. PMID: 32085876
Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB
Hum Mol Genet 2017 Sep 15;26(18):3630-3638. doi: 10.1093/hmg/ddx251. PMID: 28911203Free PMC Article
Chaabouni M, Etchevers H, De Blois MC, Calvas P, Waill-Perrier MC, Vekemans M, Romana SP
Invest Ophthalmol Vis Sci 2010 Sep;51(9):4380-6. Epub 2010 Feb 17 doi: 10.1167/iovs.09-4111. PMID: 20164457

Diagnosis

Diel H, Ding C, Grehn F, Chronopoulos P, Bartsch O, Hoffmann EM
BMC Ophthalmol 2021 Jan 11;21(1):28. doi: 10.1186/s12886-020-01788-0. PMID: 33430815Free PMC Article
Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV
Genet Med 2020 Oct;22(10):1623-1632. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0854-x. PMID: 32499604Free PMC Article
Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE
Ophthalmology 2020 Jun;127(6):758-766. Epub 2020 Jan 7 doi: 10.1016/j.ophtha.2019.12.024. PMID: 32085876
Ma AS, Grigg JR, Jamieson RV
Hum Genet 2019 Sep;138(8-9):899-915. Epub 2018 Sep 21 doi: 10.1007/s00439-018-1935-7. PMID: 30242500
Song W, Hu X
Medicine (Baltimore) 2017 Aug;96(33):e7791. doi: 10.1097/MD.0000000000007791. PMID: 28816964Free PMC Article

Prognosis

Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F
Gene 2013 Dec 10;532(1):13-7. Epub 2013 Aug 14 doi: 10.1016/j.gene.2013.07.058. PMID: 23954224
Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV
Am J Med Genet A 2008 Oct 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498. PMID: 18798333Free PMC Article

Clinical prediction guides

Rraku E, Kerstjens-Frederikse WS, Swertz MA, Dijkhuizen T, van Ravenswaaij-Arts CMA, Engwerda A
Orphanet J Rare Dis 2023 Mar 24;18(1):68. doi: 10.1186/s13023-023-02670-0. PMID: 36964621Free PMC Article
Diel H, Ding C, Grehn F, Chronopoulos P, Bartsch O, Hoffmann EM
BMC Ophthalmol 2021 Jan 11;21(1):28. doi: 10.1186/s12886-020-01788-0. PMID: 33430815Free PMC Article
Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, Zhou T, Javadiyan S, Nicholl J, Kearns LS, Staffieri SE, Narita A, Smith JEH, Pater J, Hewitt AW, Ruddle JB, Elder JE, Mackey DA, Burdon KP, Craig JE
Ophthalmology 2020 Jun;127(6):758-766. Epub 2020 Jan 7 doi: 10.1016/j.ophtha.2019.12.024. PMID: 32085876
Rausch RL, Libby RT, Kiernan AE
PLoS One 2018;13(5):e0197048. Epub 2018 May 8 doi: 10.1371/journal.pone.0197048. PMID: 29738572Free PMC Article
Chaabouni M, Etchevers H, De Blois MC, Calvas P, Waill-Perrier MC, Vekemans M, Romana SP
Invest Ophthalmol Vis Sci 2010 Sep;51(9):4380-6. Epub 2010 Feb 17 doi: 10.1167/iovs.09-4111. PMID: 20164457

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