Coats’ disease: not such a smooth ride

Nucci, Paolo

doi:10.1007/s00417-017-3796-5

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Cited by 2 publications

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“…This may suggest a non-genetic etiology for this disorder, a post-zygotic somatic mutation or an acquired mechanical alteration of vascular development as Nucci already hypothesized. 12 To confirm the second hypothesis we would have needed retinal tissue on which to carry out genetic analysis as described by Black et al, 7 but this option was ruled out being eyes with optimal visual capacity.…”

Section: Discussionmentioning

confidence: 99%

Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease

Lizzio

Monfrini

Romano

et al. 2022

European Journal of Ophthalmology

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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 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.

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Section: Discussionmentioning

confidence: 99%