Article

Retinal Detachment in Type IX collagen recessive Stickler syndrome

2024-03-26

Abstract excerpt

<title>Abstract</title> <p>Objective Stickler Syndrome (SS) is associated with eye, joint and orofacial abnormalities. Most cases are dominantly inherited through variants in genes encoding type-II/XI collagen <italic>(COL2A1</italic>/COL11A1), with patients having up to 78% retinal detachment (RD) risk.<sup>1</sup> More recently, rarer cases of recessive SS have been identified, associated with pathogenic varia...

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Literature Corpus work: a47e9fde-2028-5a6e-b4af-194196d1b878
DOI: 10.21203/rs.3.rs-3894285/v1

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