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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): 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Uveal ectropion
MedGen UID:
602252
•Concept ID:
C0423325
•
Disease or Syndrome
Presence of iris pigment epithelium on the anterior surface of the iris.
See: Feature record | Search on this feature
Corneal stromal edema
MedGen UID:
96883
•Concept ID:
C0474444
•
Finding
Abnormal accumulation of fluid and swelling of the stroma of cornea.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Optic nerve dysplasia
MedGen UID:
390938
•Concept ID:
C2676026
•
Finding
The presence of developmental dysplasia of the optic nerve.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Simultaneous Management of Retinal Detachment and Aphakia with Pars Plana Vitrectomy, Silicone Oil Tamponade and Retropupillary Iris-Claw Intraocular Lens Implantation in These Cases.
Hsin S, Stappler T, Potic J, Wolfensberger TJ, Konstantinidis L
Klin Monbl Augenheilkd 2022 Apr;239(4):490-493. Epub 2022 Apr 26 doi: 10.1055/a-1766-6381. PMID: 35472792
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: 34304165Free 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

Recent clinical studies

Etiology

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Yergeau C, Coussa RG, Antaki F, Argyriou C, Koenekoop RK, Braverman NE
Ophthalmology 2023 Dec;130(12):1313-1326. Epub 2023 Aug 2 doi: 10.1016/j.ophtha.2023.07.026. PMID: 37541626
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
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

Diagnosis

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
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
Etiologies and clinical characteristics of young patients with angle-closure glaucoma: a 15-year single-center retrospective study.
Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X
Graefes Arch Clin Exp Ophthalmol 2021 Aug;259(8):2379-2387. Epub 2021 Apr 19 doi: 10.1007/s00417-021-05172-6. PMID: 33876278Free PMC Article

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
Spontaneous coronary artery dissection: Ten years' experience of a tertiary center.
Proença T, Martins Carvalho M, Alves Pinto R, Dias P, Macedo F
Rev Port Cardiol 2023 Mar;42(3):261-266. Epub 2023 Jan 25 doi: 10.1016/j.repc.2023.01.018. PMID: 36706915
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: 34304165Free PMC Article
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
Accuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children.
Chan WH, Lloyd IC, Symes RJ, Ashworth JL, Cosgrove E, Pilling R, Biswas S
Asia Pac J Ophthalmol (Phila) 2015 Nov-Dec;4(6):357-9. doi: 10.1097/APO.0000000000000138. PMID: 26716432

Prognosis

Transseptal coronary artery-a pictorial review.
Maller VV, Johnson JN, Boston U, Knott-Craig C
Pediatr Radiol 2024 Jul;54(8):1261-1269. Epub 2024 Apr 19 doi: 10.1007/s00247-024-05911-x. PMID: 38637337Free PMC Article
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
Three-Dimensional Reconstruction of Post-Traumatic Deficient Anterior Maxilla.
Rachmiel A, Shilo D, Aizenbud D, Pen M, Rachmiel D, Emodi O
J Oral Maxillofac Surg 2017 Dec;75(12):2689-2700. Epub 2017 May 15 doi: 10.1016/j.joms.2017.05.006. PMID: 28599124
Treatment of basilar invagination.
Klekamp J
Eur Spine J 2014 Aug;23(8):1656-65. Epub 2014 Jun 18 doi: 10.1007/s00586-014-3423-7. PMID: 24938181
Ebstein's anomaly in adults: Doppler-echocardiographic evaluation.
Oechslin E, Buchholz S, Jenni R
Thorac Cardiovasc Surg 2000 Aug;48(4):209-13. doi: 10.1055/s-2000-6900. PMID: 11005594

Clinical prediction guides

Three-dimensional Computed Tomography Scan of the Pelvic Bone in Isolated Epispadias: Analysis Before Surgical Correction.
Kamran H, Bitaraf M, Tanhaeivash R, Kajbafzadeh AM
Urology 2023 Oct;180:235-241. Epub 2023 Jul 18 doi: 10.1016/j.urology.2023.05.050. PMID: 37473922
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
Craniometric and Volumetric Analysis of Posterior Vault Distraction Osteogenesis: 10 Year Update.
Zapatero ZD, Kalmar CL, Kosyk MS, Carlson AR, Swanson JW, Bartlett SP, Taylor JA
J Craniofac Surg 2021 Oct 1;32(7):2379-2383. doi: 10.1097/SCS.0000000000007838. PMID: 34191772
Three-Dimensional Reconstruction of Post-Traumatic Deficient Anterior Maxilla.
Rachmiel A, Shilo D, Aizenbud D, Pen M, Rachmiel D, Emodi O
J Oral Maxillofac Surg 2017 Dec;75(12):2689-2700. Epub 2017 May 15 doi: 10.1016/j.joms.2017.05.006. PMID: 28599124
Treatment of basilar invagination.
Klekamp J
Eur Spine J 2014 Aug;23(8):1656-65. Epub 2014 Jun 18 doi: 10.1007/s00586-014-3423-7. PMID: 24938181

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: 34304165Free PMC Article

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    • ClinVar
      Related medical variations
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
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      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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