Published online Oct 16, 2023. doi: 10.12998/wjcc.v11.i29.7034
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
A retrospective study at a tertiary eye care centre of National Importance. To study and observe the demographics and clinical findings in a very rare ocular disease known as Axenfeld-Rieger syndrome (ARS).
ARS has autosomal dominant inheritance and a prevalence of 1:100000 to 1:200000 population. This disease is typically characterized by developmental abnormalities in the angle of the anterior chamber and iris of the eye, often associated with structural anomalies in the body. To the best of the authors’ knowledge, there have been very few reports depicting the clinical features of ARS published from the Indian sub-continent.
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.
Patients’ presenting complaints and their duration, treatment history, slit-lamp findings of anterior segment structures, intraocular pressure, clinical photographs if acquired, posterior segment findings including fundus evaluation, optical coherence tomography and ultrasound B-Scan whenever performed, treatment modality and response to treatment were recorded. Case records of family members of the patients who were evaluated to look for features of ARS were also included in the study.
Of the 1826 records examined, 10 cases were found to be diagnosed with ARS based on slit-lamp biomicroscopy (0.58%). Three patients had only Axenfeld’s Anomaly and the others had a combination of ocular features. Out of 10, eight patients (80%) were found to have glaucoma at presentation or were under treatment for the same. Out of these eight cases, two eyes were managed surgically, while other eyes were managed medically. All the patients were advised follow-up at intervals of 1 to 3 mo.
In our study, a high proportion of cases (80%) was found to have glaucoma and we suggest having a high degree of suspicion while performing anterior segment evaluation. We recommend screening of family members for early detection and management of ARS in them. We found a rare association with limbal stem cell deficiency and vernal keratoconjunctivitis. We also recommend Trabeculectomy with adjuncts as the line of surgical management in patients refractory to maximal medical therapy, and long-term follow-up to prevent vision loss in eyes with ARS.
ARS remains a challenging disorder due to its genetic heterogeneity and wide phenotypic variability. Recent advancements in genetic and molecular research have shed light on the underlying mechanisms and brought us closer to understanding the missing links. Further exploration of epigenetic modifications, gene-gene interactions, and gene-environment interactions will likely unravel the complex nature of this syndrome. With ongoing therapeutic developments, there is hope for improved treatments that can alleviate the burden on individuals affected by ARS and improve their quality of life.