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Article

Stickler syndrome: an underdiagnosed disease. Report of a family.

Bulletin de la Societe belge d'ophtalmologie - 1 Jan 2011

De Keyzer T H W, De Veuster I, Smets R-M E

Abstract excerpt

PURPOSE: To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. METHODS: Case report. RESULTS: A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost...

Topics

Adolescent
Adult
Arthritis
Child
Child, Preschool
Collagen Type II
Connective Tissue Diseases
Female
Hearing Loss, Sensorineural
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Pedigree

Retinal Detachment

Source

Identifiers

PMID: 22003765

Provenance

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Stickler syndrome: an underdiagnosed disease. Report of a family.PMID 22003765Read ↗

Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

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Genetic variant of Stickler's syndrome.Semantic proximity Read ↗

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

[Genetic and ophthalmological assessment of patients with type II Stickler syndrome].Semantic proximity Read ↗

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

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

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

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

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

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

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