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Glaucoma 1, open angle, H(GLC1H)

MedGen UID:
409919
Concept ID:
C1969811
Disease or Syndrome
Synonym: GLC1H
 
Gene (location): 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]

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Practice guidelines

    Curated

    • NICE, 2022
      UK NICE Guideline NG81, Glaucoma: diagnosis and management

    Consumer resources

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