Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up

Mustafa Safi, Salimeh Khazaei Nejad, Mary O’Hara, Suma P. Shankar

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Ectopia lentis is displacement of the lens from its original position. It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis.

Original languageEnglish
Pages (from-to)E45-E48
JournalJournal of Pediatric Ophthalmology and Strabismus
Volume56
Issue number6
DOIs
StatePublished - Jul 5 2019

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