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©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
Axenfeld-Reiger syndrome: A search for the missing links
Arvind Kumar Morya, Prasanna Venkatesh Ramesh, Sony Sinha, Prateek Nishant, Nazia Nain, Ravi Naik Ramavath, Chetana Gone, Ripunjay Prasad
Arvind Kumar Morya, Nazia Nain, Ravi Naik Ramavath, Chetana Gone, Department of Ophthalmology, All India Institute of Medical Sciences, Bibi Nagar, Hyderabad 508126, Telangana, India
Prasanna Venkatesh Ramesh, Glaucoma Medical Officer, Mahathma Eye Hospital Private Limited, Thennur, Trichy 620017, Tamil Nadu, India
Sony Sinha, Department of Ophthalmology-Vitreo-Retina and Oculoplasty, All India Institute of Medical Sciences, Patna, Patna 801507, Bihar, India
Prateek Nishant, Department of Ophthalmology, All India Institute of Medical Sciences, Patna, Patna 801507, Bihar, India
Ripunjay Prasad, Department of Ophthalmology, RP Eye Institute, Delhi 110001, Delhi, India
Author contributions: Morya AK designed and performed the research and wrote the paper; Venkatesh PV designed the research and supervised the report; Sinha S and Nishant P designed the research and contributed to the analysis; Nain N, Ramavath RN, Gone C, and Prasad R provided clinical advice.
Institutional review board statement: We are submitting an invited case series titled “Axenfeld-Reiger Syndrome: A search for the missing links”. As this is a retrospective observational study so as per our Institute norms, no institutional ethical clearance is needed for such studies and publications.
Informed consent statement: Informed written consent was obtained from the patients for publication of this report and accompanying images.
Conflict-of-interest statement: All the authors declare that they have no conflict of interest.
Data sharing statement: Appropriate consent was taken from the adult patients and from the parents of minor patients.
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: Arvind Kumar Morya, MBBS, MNAMS, MS, Additional Professor, Department of Ophthalmology, All India Institute of Medical Sciences, Bibi Nagar, Hyderabad 508126, Telangana, India. bulbul.morya@gmail.com
Received: August 17, 2023
Peer-review started: August 17, 2023
First decision: September 4, 2023
Revised: September 12, 2023
Accepted: September 18, 2023
Article in press: September 18, 2023
Published online: October 16, 2023
BACKGROUND
Axenfeld-Rieger syndrome (ARS) is a rare cause of congenital glaucoma and may result in loss of vision. ARS is mostly autosomal dominant in nature characterized by developmental abnormalities in the angle of anterior chamber and iris of the eye, also associated with structural abnormalities in the body.
AIM
To study and observe the demographics and clinical findings in a very rare ocular disease known as ARS.
METHODS
Case records of symptomatic patients attending Ophthalmology outpatient department and diagnosed to have ocular hypertension or glaucoma in 3 years from March 2017 to March 2020 were evaluated to search for cases diagnosed with ARS. Records of all patients diagnosed with ARS were then analysed for demographic and clinical characterization as well as management and success of therapy.
RESULTS
Eight out of ten patients with positive clinical signs were symptomatic and had glaucoma. One of these patients had limbal stem cell deficiency and another had vernal keratoconjunctivitis.
CONCLUSION
Clinical characterization of ARS is important for making a definitive diagnosis and determining prognosis.
Core Tip: Clinical characteristic of Axenfeld-Rieger syndrome (ARS) is well defined and approximately 50% develop glaucoma later in life. Despite significant progress in unraveling the genetic basis of ARS, many questions still remain unanswered. One of the key challenges in studying this syndrome is the wide variability in clinical presentation, even among individuals with the same underlying genetic mutation. This suggests the involvement of additional genetic and environmental factors that modulate the phenotypic expression of the syndrome. Researchers are actively exploring epigenetic modifications, gene-gene interactions, and gene-environment interactions to uncover these missing links.
