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

Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.

Seminars in ophthalmology - 1 Jan 2014

Suemori Shinsuke, Sawada Akira, Shiraki Ikumi, Mochizuki Kiyofumi

Abstract excerpt

We report two cases of Stickler syndrome type 1 accompanied by a membranous vitreous anomaly in two Japanese sisters. A nine-year-old girl was referred to us for a rhegmatogeneous retinal detachment in her right eye. She had moderate myopia and a membranous vitreous anomaly in both eyes. She also had micrognathia and a saddle nose, leading to a diagnosis of Stickler syndrome type 1. The retinal detachment...

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 Connective Tissue Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases

Share to Hearing Loss, Sensorineural

Share to Retinal Detachment

Share to Siblings

Share to Vitreous Body

Source

Identifiers

PMID: 24164106
DOI: 10.3109/13506129.2013.839805

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

Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.PMID 24164106Read ↗

[Stickler syndrome with rhegmatogenous retinal detachment].Semantic proximity Read ↗

Stickler syndrome: an underdiagnosed disease. Report of a family.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.Semantic proximity Read ↗

Total Retinal Detachment Combined with a Novel Nonsense Mutation in the COL2A1 Gene: A Case ReportSemantic proximity Read ↗

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.Semantic proximity Read ↗

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.Semantic proximity Read ↗

Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

[Vitreous changes in Stickler syndrome].Semantic proximity Read ↗

Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.Semantic proximity Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.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.