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]
Also known as: ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5, EFEMP1
Summary: EGF containing fibulin extracellular matrix protein 1
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