U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary glaucoma

MedGen UID:
777991
Concept ID:
C3711383
Disease or Syndrome
Synonyms: Early-Onset Glaucoma; Hereditary Glaucoma
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018174
Orphanet: ORPHA359

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. [from ORDO]

Professional guidelines

PubMed

Mandal AK, Gothwal VK
Eur J Ophthalmol 2023 Jan;33(1):324-332. Epub 2022 Jun 29 doi: 10.1177/11206721221111595. PMID: 35769044
Mandal AK
Ophthalmology 1999 Aug;106(8):1621-7. doi: 10.1016/S0161-6420(99)90462-1. PMID: 10442913

Recent clinical studies

Etiology

Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Héon E
Can J Ophthalmol 2000 Feb;35(1):12-7. doi: 10.1016/s0008-4182(00)80103-9. PMID: 10711378
Thylefors B, Négrel AD
Bull World Health Organ 1994;72(3):323-6. PMID: 8062393Free PMC Article

Diagnosis

Iwata T
Asia Pac J Ophthalmol (Phila) 2022 Jul-Aug 01;11(4):360-368. Epub 2022 Jul 28 doi: 10.1097/APO.0000000000000535. PMID: 35904986
Patterson-Orazem AC, Lieberman RL
Invest Ophthalmol Vis Sci 2019 May 1;60(6):2034-2037. doi: 10.1167/iovs.19-26843. PMID: 31067323Free PMC Article
Wang Q, Grozdanic SD, Harper MM, Hamouche N, Kecova H, Lazic T, Yu C
J Biomed Opt 2011 Oct;16(10):107006. doi: 10.1117/1.3642010. PMID: 22029368
Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Héon E
Can J Ophthalmol 2000 Feb;35(1):12-7. doi: 10.1016/s0008-4182(00)80103-9. PMID: 10711378

Clinical prediction guides

Chavarría-Soley G, Rautenstrauss BI, Azofeifa J
Rev Biol Trop 2004 Sep;52(3):507-20. doi: 10.15517/rbt.v1i2.15290. PMID: 17361544
Williams-Lyn D, Flanagan J, Buys Y, Trope GE, Fingert J, Stone EM, Héon E
Can J Ophthalmol 2000 Feb;35(1):12-7. doi: 10.1016/s0008-4182(00)80103-9. PMID: 10711378
BIRO I
Ophthalmologica 1959 Sep;138:161-9. doi: 10.1159/000303626. PMID: 13800924

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...