Dataset Information

Axenfeld-Reiger syndrome: A search for the missing links.

ABSTRACT:

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.

SUBMITTER: Morya AK

PROVIDER: S-EPMC10631407 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature

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Publications

Axenfeld-Reiger syndrome: A search for the missing links.

Morya Arvind Kumar AK Ramesh Prasanna Venkatesh PV Sinha Sony S Nishant Prateek P Nain Nazia N Ramavath Ravi Naik RN Gone Chetana C Prasad Ripunjay R

World journal of clinical cases 20231001 29

<h4>Background</h4>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.<h4>Aim</h4>To study and observe the demographics and clinical findings in a very rare ocular disease known as ARS.<h4>Methods</h4>Case records of symptomatic patients attending ...[more]

PMID: 37946776

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Project description:BACKGROUND:The surgical management of glaucoma associated with Axenfeld-Rieger Syndrome (ARS) is poorly described in the literature. The goal of this study is to compare the effectiveness of various glaucoma surgeries on intraocular pressure (IOP) management in ARS. METHODS:Retrospective cohort study at a university hospital-based practice of patients diagnosed with ARS between 1973 and 2018. Exclusion criterion was follow-up less than 1?year. The number of eyes with glaucoma (IOP???21?mmHg with corneal edema, Haabs striae, optic nerve cupping or buphthalmos) requiring surgery was determined. The success and survival rates of goniotomy, trabeculotomy±trabeculectomy (no antifibrotics), cycloablation, trabeculectomy with anti-fibrotics, and glaucoma drainage device placement were assessed. Success was defined as IOP of 5-20?mmHg and no additional IOP-lowering surgery or visually devastating complications. Kaplan-Meier survival curves and the Wilcoxon test were used for statistical analysis. RESULTS:In 32 patients identified with ARS (median age at presentation 6.9?years, 0-58.7?years; median follow-up 5.4?years, 1.1-43.7?years), 23 (71.9%) patients were diagnosed with glaucoma at median age 6.3?years (0-57.9?years). In glaucomatous eyes (46 eyes), mean IOP at presentation was 21.8?±?9.3?mmHg (median 20?mmHg, 4-45?mmHg) on 1.0?±?1.6 glaucoma medications. Thirty-one eyes of 18 patients required glaucoma surgery with 2.2?±?1.2 IOP-lowering surgeries per eye. Goniotomy (6 eyes) showed 43% success with 4.3?±?3.9?years of IOP control. Trabeculotomy±trabeculectomy (6 eyes) had 17% success rate with 14.8?±?12.7?years of IOP control. Trabeculectomy with anti-fibrotics (14 eyes) showed 57% success with 16.5?±?13.5?years of IOP control. Ahmed© (FP7 or FP8) valve placement (8 eyes) had 25% success rate with 1.7?±?1.9?years of IOP control. Baerveldt© (250 or 350) device placement (8 eyes) showed 70% success with 1.9?±?2.3?years of IOP control. Cycloablation (4 eyes) had 33% success rate with 2.7?±?3.5?years of IOP control. At final follow-up, mean IOP (12.6?±?3.8?mmHg, median 11.8?mmHg, 7-19?mmHg) in glaucomatous eyes was significantly decreased (p?<?0.0001), but there was no difference in number of glaucoma medications (1.6?±?1.5, p?=?0.1). CONCLUSIONS:In our series, greater than 70% of patients with ARS have secondary glaucoma that often requires multiple surgeries. Trabeculectomy with anti-fibrotics and Baerveldt glaucoma drainage devices showed the greatest success in obtaining IOP control.

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Dataset Information

Axenfeld-Reiger syndrome: A search for the missing links.

Background

Aim

Methods

Results

Conclusion

Publications

Axenfeld-Reiger syndrome: A search for the missing links.

Similar Datasets

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