|Year : 2022 | Volume
| Issue : 1 | Page : 19-20
Roberts syndrome with bilateral corneal opacity: A case report
Mukaddes Damla Ciftci1, Cumali Degirmenci1, Elif Demirkilinc Biler1, Tahir Atik2, Onder Uretmen1
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
|Date of Submission||28-Feb-2021|
|Date of Acceptance||27-Jul-2021|
|Date of Web Publication||07-Jan-2022|
Dr. Cumali Degirmenci
Department of Ophthalmology, Faculty of Medicine, Ege University Hospital, Bornova, İzmir - 35100,
Source of Support: None, Conflict of Interest: None
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.
Keywords: Cataract, cornea, Roberts syndrome
|How to cite this article:|
Ciftci MD, Degirmenci C, Biler ED, Atik T, Uretmen O. Roberts syndrome with bilateral corneal opacity: A case report. Indian J Ophthalmol Case Rep 2022;2:19-20
|How to cite this URL:|
Ciftci MD, Degirmenci C, Biler ED, Atik T, Uretmen O. Roberts syndrome with bilateral corneal opacity: A case report. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 23];2:19-20. Available from: https://www.ijoreports.in/text.asp?2022/2/1/19/334953
Roberts syndrome (RBS) is a rare autosomal recessive genetic disorder. It was named for the first time in 1919 by John Roberts who reported the case of a baby boy with tetra-phocomelia (symmetrical limb reduction) and cleft palate. RBS is also called pseudothalidomide syndrome because of its similarity to the limb defects seen in thalidomide embryopathy. Mutation in the ESCO2 (establishment of cohesion 1 homologue 2) gene has been reported to cause disease. The ESCO2 gene is located in the short (p) arm of chromosome 8 at position 21.1. The ESCO2 protein encoded by this gene ensures that the sister chromatids remain together until the chromosomes are ready to separate during cell division. The frequency of carriage of RBS is unknown. RBS and SC phocomelia syndrome were verified to be the same disease with different severities, with SC phocomelia considered as a milder form of RBS. Typical clinical features include pre- and post-natal growth retardation, bilateral symmetric limb anomalies, and craniofacial anomalies. Patients with RBS may have many facial anomalies such as cleft palate, micrognathia, as well as eye-related 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.
| Case Report|| |
A four-year-old girl with leukocoria was referred to our clinic. The patient presented with symmetrical limb reduction, as well as remarkable growth and developmental retardation and micrognathia at admission. The patient was orthophoric with no restrictions in eye movements. Slit-lamp anterior segment examination revealed bilateral corneal opacities, irregular pupillary contours, iris pigments scattered over the lens, and anterior polar cataract in the right lens center. The right eye's posterior segment could not be evaluated due to lenticular opacity. In the right eye ultrasonography, no pathology of the retina or vitreous was detected. Fundus examination of the left eye revealed diffuse chorioretinal atrophy. The patient's medical history revealed that she was born at term with spontaneous vaginal delivery and had a female sibling aged two years with similar clinical physical features. [Figure 1] shows anterior segment photographs of both siblings with corneal opacities. Both siblings were evaluated by the pediatric genetics department of our hospital. Both siblings presented with wrist and elbow flexion contracture, large nasal bridge, knee flexion contracture, low localized ear, micrognathia, microcephaly, tetrahypomelia, down slating palpebral fissures, and short neck. On examination of the head and neck of the older sibling, a prior cleft lip and palate surgery was revealed. [Figure 2] shows face and extremity photographs of older sister. The same patient also presented a closed patent ductus arteriosus on her previous echocardiography. Thrombocytopenia was not detected in complete blood count. Genetic analysis revealed an ESCO2 gene c.679G> T (p.Glu227Ter) homozygous mutation. These findings were consistent with RBS. The older sibling was operated for right developmental cataract under general anesthesia. Lens aspiration, posterior capsulorhexis, anterior vitrectomy, and 28.0 D posterior chamber intraocular lens implantation were performed. [Figure 3] shows postoperative anterior segment photographs.
|Figure 1: (a and b) Anterior segment of older sister. (c and d) Younger sister showing bilateral corneal opacities. (from Ege University Hospital Department of Ophtalmology archive)|
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|Figure 2: Face (a and b) and extremity (c and d) photographs of older sister showing down slating palpebral fissures, operated cleft lip and palate and limb contractures. (from Ege University Hospital Department of Ophthalmology archive)|
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|Figure 3: (a and b) Postoperative anterior segment of right eye of older sister. (c and d) Anterior segment of left eye of older sister showing corneal opacities. (from Ege University Hospital Department of Ophthalmology archive)|
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The patients' parents were informed about this publication and written consent was obtained for publishing gathered images.
| Discussion|| |
RBS is a rare autosomal recessive genetic disorder with developmental anomalies that is seldom encountered in ophthalmology clinics. As seen from the current case, RBS should be considered in the differential diagnosis of patients presenting with corneal opacity or cataract along with multiple anomalies such as hypomelia, cleft lip and palate, and micrognathia. In addition, hypertelorism, coloboma, and exophthalmos due to shallow orbits may be seen in these patients. Genetic diagnosis of patients with RBS is very important because of the high risk of recurrence (25%) in subsequent children. Prenatal diagnosis of RBS requires cytogenetic analysis of fetal cells obtained from chorionic villi sample, amniocentesis, or cordocentesis. Multidisciplinary evaluation of these patients is recommended.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
| Conclusion|| |
RBS should be kept in mind as a rare cause of cataract and corneal opacity in patients with multiple anomalies. Multidisciplinary evaluation of these patients is recommended.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
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[Figure 1], [Figure 2], [Figure 3]