Article
A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
Molecular vision - 1 Jan 2020
Darbari Ensieh, Zare-Abdollahi Davood, Alavi Afagh, Rezaei Kanavi Mozhgan, Feizi Sepehr, Hosseini Seyed Bagher, Baradaran-Rafii Alireza, Ahmadieh Hamid, Issazadeh-Navikas Shohreh, Elahi Elahe
Abstract excerpt
Purpose: Peters anomaly (PA) is a heterogeneous developmental disorder characterized by central corneal opacity and iridocorneal or corneolenticular adhesions. Although many causative genes have been identified, most screened patients do not have mutations in the known genes. We aimed to identify the genetic cause of Peters anomaly in a pedigree with three affected individuals. Methods: Slit-lamp biomicroscopy...
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