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Article

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Ophthalmic genetics - 1 Jun 2024

Boysen Kirstine Bolette, Tümer Zeynep, Bach-Holm Daniella, Bisgaard Anne-Marie, Kessel Line

Abstract excerpt

BACKGROUND: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for...

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Source

Identifiers

PMID: 38299479
DOI: 10.1080/13816810.2024.2309700

Genes

COL11A1
COL2A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.PMID 38299479Read ↗

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case reportSemantic proximity Read ↗

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.Semantic proximity Read ↗

Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.Semantic proximity Read ↗

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotypeSemantic proximity Read ↗

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.Semantic proximity Read ↗

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.Semantic proximity Read ↗

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.Semantic proximity Read ↗

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.Semantic proximity Read ↗

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