Purpose To report the unique case of a pair of phenotypically discordant monozygotic twins, with one of them affected by unilateral Coats disease. Case report 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. Conclusion 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.
Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease / Lizzio, Rosario Alfio Umberto; Monfrini, Edoardo; Romano, Simona; Brescia, Gloria; Vujosevic, Stela; Sacchi, Matteo; Di Fonzo, Alessio; Nucci, Paolo. - In: EUROPEAN JOURNAL OF OPHTHALMOLOGY. - ISSN 1724-6016. - 33:4(2023). [10.1177/11206721221107798]
Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease
Sacchi, Matteo;
2023-01-01
Abstract
Purpose To report the unique case of a pair of phenotypically discordant monozygotic twins, with one of them affected by unilateral Coats disease. Case report 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. Conclusion 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
