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Article

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.

Ophthalmic genetics - 1 Apr 2021

Kjellström Ulrika, Martell Susanne, Brobeck Cecilia, Andréasson Sten

Abstract excerpt

Background: Stickler syndrome is a hereditary disorder of collagen tissues causing ocular, auditory, orofacial, and joint manifestations. Ocular findings typically include vitreous degeneration, high myopia, retinal detachment, and cataract. Many subjects demonstrate sensorineural or conductive hearing loss. The inheritance is autosomal dominant with mutations in COL2A1, COL11A1, or COL11A2 or autosomal recessive...

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Identifiers

PMID: 33356723
DOI: 10.1080/13816810.2020.1861309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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