Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease-Reference-Cited by-同舟云学术

Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease

Published:2022-06-09 Issue: Volume: Page:112067212211077
ISSN:1120-6721
Container-title:European Journal of Ophthalmology
language:en
Short-container-title:European Journal of Ophthalmology

Author:

Lizzio Rosario Alfio Umberto¹^ORCID,Monfrini Edoardo²³,Romano Simona¹,Brescia Gloria³⁴,Vujosevic Stela¹⁵^ORCID,Sacchi Matteo¹,Di Fonzo Alessio²³,Nucci Paolo⁵

Affiliation:

1. University Eye Clinic, IRCCS Multimedica, Milan, Italy

2. Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

3. Neurology Unit, Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

4. Laboratory of Medical Genetics, Foundation IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy

5. Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy

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.

Publisher

SAGE Publications

Subject

Ophthalmology,General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/11206721221107798

Reference12 articles.

1. Coats disease in 351 eyes: Analysis of features and outcomes over 45 years (by decade) at a single center

2. Recent advances in the diagnosis and treatment of Coats’ disease

3. Classification and management of Coats disease: the 2000 Proctor Lecture

4. A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis

5. Refining Coats’ disease by ultra-widefield imaging and optical coherence tomography angiography