Lizzio Rosario Alfio Umberto, Monfrini Edoardo, Romano Simona, Brescia Gloria, Vujosevic Stela, Sacchi Matteo, Di Fonzo Alessio, Nucci Paolo
University Eye Clinic, IRCCS Multimedica, Milan, Italy.
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Eur J Ophthalmol. 2023 Jul;33(4):NP1-NP4. doi: 10.1177/11206721221107798. Epub 2022 Jun 9.
To report the unique case of a pair of phenotypically discordant monozygotic twins, with one of them affected by unilateral Coats disease.
Both patients underwent a complete ophthalmologic evaluation and were genetically tested with whole-exome sequencing (WES). Any known or unknown potential genetic determinant of Coats disease wasn't found.
It may suggest a non-genetic etiology for this disorder. This represents, to the best of our knowledge, the first case of genetic analysis of monozygotic twins, one of whom is affected by Coats disease. Further studies are warranted, including performing genetic analysis directly on retinal biopsy tissue.
