Glaucoma 1, open angle, H(GLC1H)

MedGen UID:: 409919
•Concept ID:: C1969811
•: Disease or Syndrome

Synonym:	GLC1H

Gene (location): Gene(s) directly associated with this condition or phenotype.	EFEMP1 (2p16.1)

OMIM®:	611276

Definition

Open angle glaucoma-1H (GLC1H) is characterized by elevated intraocular pressures (IOPs) associated with visual field and optic nerve abnormalities. In some families, affected members present mostly in the 'juvenile-onset' (JOAG) age range (between 3 and 35 to 40 years of age), whereas in other families, affected individuals present mostly in the 'adult-onset' (POAG) age range (after age 35 or 40 years). Patients with early-onset disease generally have a more severe presentation, with higher IOPs and higher likelihood of being blind in at least 1 eye (summary by Mackay et al., 2015; Collantes et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of primary open angle glaucoma (POAG), see 137760. [from OMIM]

Clinical features

From HPO

Open-angle glaucoma

MedGen UID:: 6611
•Concept ID:: C0017612
•: Disease or Syndrome

A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,

See: Feature record | Search on this feature

Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

See: Feature record | Search on this feature

Raised intraocular pressure

MedGen UID:: 68606
•Concept ID:: C0234708
•: Finding

Intraocular pressure that is 2 standard deviations above the population mean.

See: Feature record | Search on this feature

Nuclear cataract

MedGen UID:: 140274
•Concept ID:: C0392557
•: Finding

A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.

See: Feature record | Search on this feature

Increased cup-to-disc ratio

MedGen UID:: 812241
•Concept ID:: C3805911
•: Finding

An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.

See: Feature record | Search on this feature

Visual field defect