Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease

被引：0

作者：

Lizzio, Rosario Alfio Umberto ^{[1
]}

Monfrini, Edoardo ^{[2
,3
]}

Romano, Simona ^{[1
]}

Brescia, Gloria ^{[3
,4
]}

Vujosevic, Stela ^{[1
,5
]}

Sacchi, Matteo ^{[1
]}

Di Fonzo, Alessio ^{[2
,3
]}

Nucci, Paolo ^{[5
]}

机构：

[1] Univ Eye Clin, IRCCS Multimed, Via San Vittore 12, I-20123 Milan, Italy

[2] Univ Milan, Dept Pathophysiol & Transplantat, Dino Ferrari Ctr, Milan, Italy

[3] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy

[4] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Lab Med Genet, Milan, Italy

[5] Univ Milan, Dept Biomed Surg & Dent Sci, Milan, Italy

来源：

EUROPEAN JOURNAL OF OPHTHALMOLOGY | 2023年 / 33卷 / 04期

关键词：

Coats disease; Coats; genetic; monozygotic twins; genetic analysis; genetic evaluation; phenotypically discordant monozygotic twins; retinal telangiectasia; idiopatic retinal vasculopathy; MUTATION; FEATURES;

D O I：

10.1177/11206721221107798

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：NP1 / NP4

页数：4

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