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Anterior segment dysgenesis 8(ASGD8)

MedGen UID:: 934589
•Concept ID:: C4310622
•: Congenital Abnormality

Synonym:	ASGD8
SNOMED CT:	Autosomal recessive anterior segment dysgenesis (1197358003); Autosomal recessive dysgenesis of anterior segment of eye (1197358003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	CPAMD8 (19p13.11)

Monarch Initiative:	MONDO:0015017
OMIM®:	617319
Orphanet:	ORPHA519388

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). [from OMIM]

Clinical features

From HPO

Corneal opacity

MedGen UID:: 40485
•Concept ID:: C0010038
•: Finding

A reduction of corneal clarity.

See: Feature record | Search on this feature

Ectopia lentis

MedGen UID:: 41704
•Concept ID:: C0013581
•: Congenital Abnormality

Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Microphakia

MedGen UID:: 78609
•Concept ID:: C0266541
•: Congenital Abnormality

Abnormal smallness of the lens.

See: Feature record | Search on this feature

Hypoplasia of the iris

MedGen UID:: 91029
•Concept ID:: C0344539
•: Congenital Abnormality

Congenital underdevelopment of the iris.

See: Feature record | Search on this feature

Persistent pupillary membrane

MedGen UID:: 138009
•Concept ID:: C0344541
•: Congenital Abnormality

The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.

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Iridodonesis

MedGen UID:: 451052
•Concept ID:: C0423320
•: Disease or Syndrome

Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.

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Uveal ectropion

MedGen UID:: 602252
•Concept ID:: C0423325
•: Disease or Syndrome

Presence of iris pigment epithelium on the anterior surface of the iris.

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Corneal stromal edema

MedGen UID:: 96883
•Concept ID:: C0474444
•: Finding

Abnormal accumulation of fluid and swelling of the stroma of cornea.

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Iris transillumination defect

MedGen UID:: 786045
•Concept ID:: C1096099
•: Anatomical Abnormality

Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.

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Congenital ectopic pupil

MedGen UID:: 224790
•Concept ID:: C1271219
•: Congenital Abnormality

Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.

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Optic nerve dysplasia

MedGen UID:: 390938
•Concept ID:: C2676026
•: Finding

The presence of developmental dysplasia of the optic nerve.

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Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye morphology
    - Abnormal anterior eye segment morphology
      - Anterior segment dysgenesis
        Anterior segment dysgenesis 8

Professional guidelines

PubMed

Red reflex test screening for neonates: A systematic review and meta analysis.

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: 34304165 Free PMC Article

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: 31848469 Free PMC Article

FOXE3 mutations: genotype-phenotype correlations.

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

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Recent clinical studies

Etiology

Management and Outcomes of Posterior Persistent Fetal Vasculature.

de Saint Sauveur G, Chapron T, Abdelmassih Y, Chehaibou I, Lecler A, Dureau P, Metge F, Caputo G
Ophthalmology 2023 Aug;130(8):844-853. Epub 2023 Apr 11 doi: 10.1016/j.ophtha.2023.03.027. PMID: 37044159

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

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: 35354164 Free 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: 35001688 Free PMC Article

Ocular Phenotype of Peters-Plus Syndrome.

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

Consecutive tooth agenesis patterns in non-syndromic oligodontia.

Baba R, Sato A, Arai K
Odontology 2022 Jan;110(1):183-192. Epub 2021 Jul 8 doi: 10.1007/s10266-021-00634-z. PMID: 34236541

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Diagnosis

Management and Outcomes of Posterior Persistent Fetal Vasculature.

Quantification of Anterior Chamber Cells in Children With Uveitis Using Anterior Segment Optical Coherence Tomography.

Tsui E, Chen JL, Jackson NJ, Leyva O, Rasheed H, Baghdasaryan E, Fung SSM, McCurdy DK, Sadda SR, Holland GN
Am J Ophthalmol 2022 Sep;241:254-261. Epub 2022 May 21 doi: 10.1016/j.ajo.2022.05.012. PMID: 35609675 Free PMC Article

Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.

Macular atrophy in JAG1-related Alagille syndrome: a case series.

Paez-Escamilla M, Scanga HL, Liasis A, Nischal KK
Ophthalmic Genet 2022 Apr;43(2):230-234. Epub 2021 Dec 10 doi: 10.1080/13816810.2021.2004432. PMID: 34886763

Ocular Phenotype of Peters-Plus Syndrome.

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

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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

Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.

Red reflex test screening for neonates: A systematic review and meta analysis.

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: 34304165 Free PMC Article

Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy.

Lawlor C, Smithers CJ, Hamilton T, Baird C, Rahbar R, Choi S, Jennings R
Laryngoscope 2020 Feb;130(2):E65-E74. Epub 2019 Mar 25 doi: 10.1002/lary.27938. PMID: 30908672

Optical coherence tomography and intravascular ultrasound assessment of the anatomic size and wall thickness of a muscle bridge segment.

Ye Z, Lai Y, Yao Y, Mintz GS, Liu X
Catheter Cardiovasc Interv 2019 Feb 15;93(S1):772-778. Epub 2019 Feb 21 doi: 10.1002/ccd.28094. PMID: 30790433

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Prognosis

Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis.

Phenotypic Spectrum of Peters Anomaly: Implications for Management.

Elbaz U, Ali A, Strungaru H, Mireskandari K
Cornea 2022 Feb 1;41(2):192-200. doi: 10.1097/ICO.0000000000002768. PMID: 34176915

Histopathological examination of congenital corneal staphyloma and prognosis after penetrating keratoplasty.

Wan Y, Xiao G, Yu T, Zhang P, Hong J
Medicine (Baltimore) 2020 Oct 2;99(40):e21892. doi: 10.1097/MD.0000000000021892. PMID: 33019387 Free PMC Article

Cervical canal stenosis and adjacent segment degeneration after anterior cervical arthrodesis.

Zhang JT, Cao JM, Meng FT, Shen Y
Eur Spine J 2015 Aug;24(8):1590-6. Epub 2015 Apr 23 doi: 10.1007/s00586-015-3975-1. PMID: 25904424

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

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Clinical prediction guides

Clinical and angiographic features of SCAD type 4.

Macular atrophy in JAG1-related Alagille syndrome: a case series.

Paez-Escamilla M, Scanga HL, Liasis A, Nischal KK
Ophthalmic Genet 2022 Apr;43(2):230-234. Epub 2021 Dec 10 doi: 10.1080/13816810.2021.2004432. PMID: 34886763

Ocular Phenotype of Peters-Plus Syndrome.

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

Phenotypic Spectrum of Peters Anomaly: Implications for Management.

Elbaz U, Ali A, Strungaru H, Mireskandari K
Cornea 2022 Feb 1;41(2):192-200. doi: 10.1097/ICO.0000000000002768. PMID: 34176915

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

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Recent systematic reviews

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.

Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX
Hum Mutat 2022 Dec;43(12):2141-2152. Epub 2022 Oct 17 doi: 10.1002/humu.24483. PMID: 36208099

Red reflex test screening for neonates: A systematic review and meta analysis.

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: 34304165 Free PMC Article

See all (2)

MedGen

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Anterior segment dysgenesis 8(ASGD8)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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