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

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.

Ophthalmic genetics - 1 Jun 2020

Boysen Kirstine B, La Cour Morten, Kessel Line

Abstract excerpt

BACKGROUND: Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). Affected patients manifest ocular, auditory, articular, and craniofacial manifestations in varying degrees. Ocular symptoms include myopia, retinal detachment, cataract, and glaucoma. The aim of this systematic review was to evaluate the prevalence of ocular manifestations and the outcome of...

Read the complete abstract on PubMed

Topics

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

Share to Arthritis
Share to Collagen Type II
Share to Collagen Type XI

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connective Tissue Diseases

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Retinal Detachment

Source

Identifiers

PMID: 32316871
DOI: 10.1080/13816810.2020.1747092

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.PMID 32316871Read ↗

Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.Semantic proximity Read ↗

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.Semantic proximity Read ↗

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.Semantic proximity Read ↗

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.Semantic proximity Read ↗

Stickler syndrome - lessons from a national cohort.Semantic proximity Read ↗

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.Semantic proximity Read ↗

Retinal Detachment in Type IX collagen recessive Stickler syndromeSemantic proximity Read ↗

Retinal detachment in Type IX collagen recessive Stickler syndrome.Semantic proximity Read ↗

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.Semantic proximity Read ↗

Ophthalmic manifestations of Czech dysplasia.Semantic proximity Read ↗

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

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