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CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 19-20

Roberts syndrome with bilateral corneal opacity: A case report


1 Department of Ophthalmology, Faculty of Medicine, Ege University Hospital, Kazımdirik, Bornova, İzmir, Turkey
2 Department of Pediatrics, Division of Pediatric Genetics, Ege University Hospital, Kazımdirik, Bornova, İzmir, Turkey

Correspondence Address:
Dr. Cumali Degirmenci
Department of Ophthalmology, Faculty of Medicine, Ege University Hospital, Bornova, İzmir - 35100,
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_487_21

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Roberts syndrome (RBS) is a rare autosomal recessive genetic disorder. Mutation in the ESCO2 (establishment of cohesion 1 homologue 2) gene has been reported to cause disease. Patients with RBS may have many ophthalmologic pathologies such as hypertelorism, down slating palpebral fissures, corneal opacity, and congenital cataract. Here, we report the case of two siblings who were diagnosed with RBS and were followed in our clinic.


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