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Ophthalmic manifestations of Czech dysplasia

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Martin, Howard 
Richards, Allan J 
Suri, Mohnish 


jats:titleAbstract</jats:title>jats:pCzech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) jats:italicCOL2A1</jats:italic> variant. Affected individuals usually present with skeletal abnormalities such as metatarsal hypoplasia of the third and fourth toes and early‐onset arthropathy, as well as hearing loss. To date, no ophthalmic findings have been reported in patients with Czech dysplasia even though jats:italicCOL2A1</jats:italic> has been implicated in other ocular conditions such as type 1 Stickler syndrome. For the first time, we report the ocular findings in four families with Czech dysplasia, including type 1 vitreous anomaly, hypoplastic vitreous, retinal tears, and significant refractive error. These novel ocular findings expand the phenotype associated with Czech dysplasia and may aid clinicians as an additional diagnostic feature. Patients with congenital abnormalities of vitreous gel architecture have an increased risk of retinal detachment, and as such, patients may benefit from prophylaxis. Considering that many of the patients did not report any ocular symptoms, vitreous phenotyping is of key importance in identifying the need for counseling with regard to prophylaxis.</jats:p>


Publication status: Published


connective tissue diseases, retinal detachment, Czech dysplasia

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American Journal of Medical Genetics Part A

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