Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia

Research output: Contribution to journalArticle

Abstract

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.

Details

Authors
Organisations
External organisations
  • King Khaled Eye Specialist Hospital
  • Case Western Reserve University
  • Cleveland Clinic Abu Dhabi
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology
Original languageEnglish
Pages (from-to)101-102
JournalJournal of AAPOS
Volume23
Issue number2
Early online date2018 Nov 8
Publication statusPublished - 2019
Publication categoryResearch
Peer-reviewedYes