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Article

Retinal detachment in Type IX collagen recessive Stickler syndrome.

Eye (London, England) - 1 Jan 2025

Maghsoudi Daniel, Nixon Thomas Rw, Martin Howard, Richards Allan J, McNinch Annie M, Alexander Philip, Poulson Arabella V, Snead Martin P

Abstract excerpt

OBJECTIVE: Stickler Syndrome (SS) is associated with eye, joint and orofacial abnormalities. Most cases are dominantly inherited through COL2A1/COL11A1 variants encoding type-II/XI collagen, with patients having up to 78% retinal detachment (RD) risk. Rarer cases of recessive SS have also been identified, associated with pathogenic variants of genes including COL9A1, COL9A2 & COL9A3 encoding type-IX collagen, but...

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Source

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Identifiers

PMID: 39406934
DOI: 10.1038/s41433-024-03393-7
PMCID: PMC11733291

Genes

COL11A1
COL2A1
COL9A1
COL9A2
COL9A3
NHS

Provenance

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