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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.

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.

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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.

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.

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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

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

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Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R
Am J Med Genet C Semin Med Genet 2024 Dec;196(4):e32099. Epub 2024 Jul 17 doi: 10.1002/ajmg.c.32099. PMID: 39016117

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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
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Etiology

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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
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Lumbar hemivertebra resection.

Bollini G, Docquier PL, Viehweger E, Launay F, Jouve JL
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Congenital pupillary-iris-lens membrane with goniodysgenesis.

Cibis GW, Walton DS
J AAPOS 2004 Aug;8(4):378-83. doi: 10.1016/j.jaapos.2004.04.010. PMID: 15314601

Sector hamartoma of the iris.

Jakobiec FA, Howard GM, Devoe AG
Arch Ophthalmol 1975 Aug;93(8):614-7. doi: 10.1001/archopht.1975.01010020590006. PMID: 1156222

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Diagnosis

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

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Bilateral lens coloboma associated with Marfan syndrome.

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Sector hamartoma of the iris.

Jakobiec FA, Howard GM, Devoe AG
Arch Ophthalmol 1975 Aug;93(8):614-7. doi: 10.1001/archopht.1975.01010020590006. PMID: 1156222

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Prognosis

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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

Congenital pupillary-iris-lens membrane with goniodysgenesis.

Cibis GW, Walton DS
J AAPOS 2004 Aug;8(4):378-83. doi: 10.1016/j.jaapos.2004.04.010. PMID: 15314601

Sector hamartoma of the iris.

Jakobiec FA, Howard GM, Devoe AG
Arch Ophthalmol 1975 Aug;93(8):614-7. doi: 10.1001/archopht.1975.01010020590006. PMID: 1156222

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Clinical prediction guides

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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

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