Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease.

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.

Citation

Rosario Alfio Umberto Lizzio, Edoardo Monfrini, Simona Romano, Gloria Brescia, Stela Vujosevic, Matteo Sacchi, Alessio Di Fonzo, Paolo Nucci. Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease. European journal of ophthalmology. 2023 Jul;33(4):NP1-NP4

Mesh Tags

PMID: 35679086

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