Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I

Sir,

Stickler Syndrome (STL) is an autosomal dominant disorder characterized by degeneration of the vitreous and retina, and is frequently associated with myopia.¹ It is also accompanied by nonocular signs, such as orofacial anomalies, deafness, and arthritis. There are no widely accepted clinical diagnostic criteria for STL in ophthalmology.² Based on locus heterogeneity, a subclassification of STL has been proposed; COL2A1 mutation associated STL type I with a congenital ‘membranous’ vitreous anomaly; COL11A1 mutations associated with STL type II showing a ‘beaded’ phenotype; and COL11A2 mutations associated with non-ocular STL type III (OMIM 120140, 120280, and 120290).³ A subgroup of STL type I patients has been identified who are characterized by predominantly ocular disorders without systemic involvement.^{4, 5} It has been suggested that molecular genetics and scrutiny of the phenotype will provide evidence that clinicians require for accurate diagnosis.² However, several cases of STL with different degrees of severity and manifestations, and genetic background, have been reported mainly in the Western world.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account

Continue with Google

Continue with ORCiD