Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

Morantes, Sara; J. Evans, Cerys; Valencia, Ana; E. Davidson, Alice; J. Hardcastle, Alison; Ruiz‐Linares, Andrés; J. Tuft, Stephen; Cuevas, Miguel

doi:10.1097/ico.0000000000000895

Public

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family

Published in Cornea • May 25, 2016

Authors:

Sara Morantes

Cerys J. Evans

Ana Valencia

Abstract

PURPOSE: To describe the clinical signs of gelatinous drop-like corneal dystrophy (GDLD) in a consanguineous Colombian family and determine the underlying genetic cause. METHODS: We performed ocular examination of available family members and bidirectionally Sanger sequenced the GDLD-associated gene...

Subject

Missense mutation

Sanger sequencing

Allele

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!