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Article

Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.

Ophthalmology - 1 Jan 2003

Vu Cuong D, Brown Jeremiah, Körkkö Jarmo, Ritter Robert, Edwards Albert O

Abstract excerpt

PURPOSE: To report posterior chorioretinal atrophy (PCRA) and correlate the vitreous phenotype with inheritance of the disease mutation in a family with vitreoretinal dystrophy. DESIGN: Prospective observational case series. METHODS: Twenty-four members of a family with 14 affected individuals were examined, and genetic linkage analysis was performed at the COL2A1, COL11A1, and Wagner disease loci. The vitreous...

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Identifiers

PMID: 12511349
DOI: 10.1016/s0161-6420(02)01446-x

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.PMID 12511349Read ↗

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Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.Semantic proximity Read ↗

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

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.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 ↗

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

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