Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia
Research output: Contribution to journal › Article
Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and joint contractures. Recessive Weill-Marchesani syndrome typically includes spherophakia, but the ocular phenotype of recessive geleophysic dysplasia is not well defined. We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations). Features included high corneal astigmatism, accommodative esotropia, unilateral Brown syndrome, and no evidence for zonular disease at 12 years of age.
|Research areas and keywords||
Subject classification (UKÄ) – MANDATORY
|Journal||Journal of AAPOS|
|Early online date||2018 Nov 8|
|Publication status||Published - 2019|