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 / R.A.U. Lizzio, E. Monfrini, S. Romano, G. Brescia, S. Vujosevic, M. Sacchi, A. Di Fonzo, P. Nucci. - In: EUROPEAN JOURNAL OF OPHTHALMOLOGY. - ISSN 1120-6721. - (2022), pp. 1-4. [Epub ahead of print] [10.1177/11206721221107798]
Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease
R.A.U. Lizzio
Primo
;E. Monfrini;G. Brescia;S. Vujosevic;P. NucciUltimo
2022
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.File | Dimensione | Formato | |
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Genetic evaluation in phenotypically discordant monozygotic twins with Coats diseas, Lizzio et al,EJO 2022.pdf
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