Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype.

JAMA ophthalmology - 1 Jun 2023

Bergman Zachary, Anderson Katherine, Kuchtey Rachel W

Abstract excerpt

This case report describes a patient diagnosed at age 13 years with glaucoma who later presented with elevated intraocular pressure, severe cupping, open iridocorneal angle, and lens dislocation.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Glaucoma
Share to Glaucoma, Open-Angle
Share to Intraocular Pressure

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Latent TGF-beta Binding Proteins

Share to Marfan Syndrome

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 37166811
DOI: 10.1001/jamaophthalmol.2023.1488

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype.PMID 37166811Read ↗

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.Semantic proximity Read ↗

Genetics of primary glaucoma.Semantic proximity Read ↗

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.Semantic proximity Read ↗

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.Semantic proximity Read ↗

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.Semantic proximity Read ↗

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.Semantic proximity Read ↗

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Semantic proximity Read ↗

Null mutations in LTBP2 cause primary congenital glaucoma.Semantic proximity Read ↗

Exclusion of previously described variant in LTBP2 for primary glaucoma in Australian Burmese cats.Semantic proximity Read ↗

Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review.Semantic proximity Read ↗

A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus).Semantic proximity Read ↗

Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.