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

doi:10.1080/13816810.2024.2309700

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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...

Topics

Female
Humans
Male
Arthritis
Cataract
Collagen Type XI
Connective Tissue Diseases
Exome Sequencing
Hearing Loss, Sensorineural
Microphthalmos
Mutation, Missense
Pedigree
Phenotype
Retinal Detachment
Vitreous Detachment

Source

Open in PubMed

Identifiers

PMID: 38299479
DOI: 10.1080/13816810.2024.2309700

Genes

COL11A1
COL2A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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