Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Pediatric-onset glaucoma of genetic origin

Synonyms

Hereditary glaucoma

Definitions

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.

ID

http://www.orpha.net/ORDO/Orphanet_359

alternative_term

Hereditary glaucoma

definition

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=359

has_age_of_onset

Childhood

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

MeSH:C580055

label

Pediatric-onset glaucoma of genetic origin

notation

Category

ORPHA:359

prefixIRI

ORDO:Orphanet_359

prefLabel

Pediatric-onset glaucoma of genetic origin

present_in

Worldwide AND has_point_prevalence_range : Unknown

subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_522578

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http://www.orpha.net/ORDO/Orphanet_359 EFO SAME_URI