Anterior Segment Dysgenesis 8

Alternative Names

ASGD8

Associated Genes

Complement Component 3- and Pregnancy Zone Protein-Like Alpha-2-Macroglobulin Domain-Containing Protein 8

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

617319

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19p13.11

Description

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. [From OMIM]

Epidemiology in the Arab World

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Saudi Arabia

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
617319.1	Saudi Arabia		No	Yes	Primary congenital glaucoma; Lens sublux... Primary congenital glaucoma; Lens subluxation	NM_015692.5:c.4537del	Homozygous	Autosomal, Recessive	Alsaif et al. 2019	Subject 15DG0621 in ...