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Ophthalmic manifestations of Czech dysplasia.

Accepted version
Peer-reviewed

Type

Article

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Authors

Martin, Howard 
Richards, Allan J 
Suri, Mohnish 

Abstract

Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 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 COL2A1 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.

Description

Keywords

Czech dysplasia, connective tissue diseases, retinal detachment, Humans, Connective Tissue Diseases, Osteochondrodysplasias, Hearing Loss, Sensorineural, Retinal Detachment, Arthritis, Toes, Mutation, Collagen Type II, Pedigree

Journal Title

Am J Med Genet A

Conference Name

Journal ISSN

1552-4825
1552-4833

Volume Title

Publisher

Wiley