Synonyms: Hereditary progressive arthroophthalmopathy
A rare group of genetic connective tissue disorders characterized by ophthalmic auditory orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space bordered by a distinct folded membrane and Stickler type 2 by sparse and irregularly thickened bundles of ﬁbers throughout the vitreous cavity.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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The Chandler Project
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