Almulhim A, Almoallem B, Alsirrhy E, Osman EA. Unique Roberts syndrome with bilateral congenital glaucoma: A case report. World J Clin Cases 2023; 11(19): 4635-4639 [PMID: 37469722 DOI: 10.12998/wjcc.v11.i19.4635]
Corresponding Author of This Article
Amar Almulhim, MD, Academic Fellow, Department of Ophthalmology, King Saud University, King Abdullah Road, Riyadh 11411, Saudi Arabia. dr.ammar1412@gmail.com
Research Domain of This Article
Ophthalmology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jul 6, 2023; 11(19): 4635-4639 Published online Jul 6, 2023. doi: 10.12998/wjcc.v11.i19.4635
Unique Roberts syndrome with bilateral congenital glaucoma: A case report
Amar Almulhim, Basamat Almoallem, Ehab Alsirrhy, Essam A Osman
Amar Almulhim, Basamat Almoallem, Ehab Alsirrhy, Essam A Osman, Department of Ophthalmology, King Saud University, Riyadh 11411, Saudi Arabia
Basamat Almoallem, King Saud University Medical City (KSUMC), Riyadh, Saudi
Author contributions: Almulhim A and Almoallem B contributed to manuscript writing and editing; Osman E and Alsirrhy E contributed to conceptualization and supervision; and all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the parents for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Amar Almulhim, MD, Academic Fellow, Department of Ophthalmology, King Saud University, King Abdullah Road, Riyadh 11411, Saudi Arabia. dr.ammar1412@gmail.com
Received: December 29, 2022 Peer-review started: December 29, 2022 First decision: February 17, 2023 Revised: March 19, 2023 Accepted: April 20, 2023 Article in press: April 20, 2023 Published online: July 6, 2023
Abstract
BACKGROUND
Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.
CASE SUMMARY
We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements.
CONCLUSION
This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.
Core Tip: Roberts syndrome (RS) is an extremely rare disease characterized by a combination of deformities in the lower and/or upper extremities in association with other organ abnormalities. We provide here the first reported case of RS associated with bilateral congenital glaucoma. Bilateral non-penetrating glaucoma surgery was performed to control intraocular pressure and the outcome was excellent.
