Pediatric-onset glaucoma of genetic origin

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Pediatric-onset glaucoma of genetic origin

ORPHA:359Category

Also called Hereditary glaucoma

What it is

A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Category

Cross-references

GARD 2486MESH C580055MONDO 18174UMLS C3711383

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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