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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… Click to show full 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.
Journal Title: European journal of ophthalmology
Year Published: 2022
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