Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

pigment dispersion syndrome

Synonyms

glaucoma-RELATED pigment dispersion syndrome

pigment-dispersion syndrome

glaucoma, pigment-dispersion type

GPDS1

pigment-dispersion type glaucoma

glaucoma-related pigment dispersion syndrome

pigment dispersion syndrome

Definitions

Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.

ID

http://purl.obolibrary.org/obo/MONDO_0010896

database_cross_reference

DOID:0060680

SCTID:392133001

OMIM:600510

NCIT:C187288

MESH:C563184

UMLS:C1271398

Orphanet:26823

GARD:4356

definition

Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.

exactMatch

http://identifiers.org/mesh/C563184

http://purl.obolibrary.org/obo/DOID_0060680

https://omim.org/entry/600510

http://linkedlifedata.com/resource/umls/id/C1271398

http://identifiers.org/snomedct/392133001

http://purl.obolibrary.org/obo/NCIT_C187288

gwas_trait

true

has_exact_synonym

pigment-dispersion type glaucoma

glaucoma-related pigment dispersion syndrome

pigment dispersion syndrome

has_related_synonym

glaucoma-RELATED pigment dispersion syndrome

pigment-dispersion syndrome

glaucoma, pigment-dispersion type

GPDS1

id

MONDO:0010896

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

pigment dispersion syndrome

notation

MONDO:0010896

preferred label

pigment dispersion syndrome

prefLabel

pigment dispersion syndrome

see also

https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome

subClassOf

http://www.ebi.ac.uk/efo/EFO_0003966

http://www.ebi.ac.uk/efo/EFO_0000508

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