Updates 2024
The research articles included in the literature review are foundational and relevant studies on aniridia. Although some were published prior to 2023, they are included because they provide essential insights and comprehensive overviews that are critical to understanding the current state of knowledge on aniridia. These earlier studies are often referenced in subsequent research and are still considered valuable for their contributions to the field. Here’s the detailed review with publication dates and explanations:
Literature Review on Aniridia
1. Clinical Outcomes and Visual Prognostic Factors in Congenital Aniridia
- Summary: This study investigates the clinical outcomes and visual prognostic factors in patients with congenital aniridia. The research focuses on the prevalence and progression of glaucoma, cataracts, and keratopathy in these patients. It was found that at final follow-up, 52% of eyes had glaucoma, 65% had keratopathy, and 48% had cataracts. The study highlights the need for early and regular ophthalmic monitoring to manage these complications effectively.
- Reference: BMC Ophthalmology, 2023. Available at: BMC Ophthalmology.
2. Congenital Aniridia: A Comprehensive Review of Clinical Features and Therapeutic Approaches
- Summary: This review provides a detailed overview of the clinical features and therapeutic approaches for congenital aniridia. It discusses the genetic basis of the disease, primarily focusing on PAX6 mutations. The review covers various ocular complications, including aniridia-associated keratopathy, glaucoma, and cataract, and explores new treatment options like stem cell therapy.
- Reference: Landsend, E.C.S., Lagali, N., & Utheim, T.P. (2021). Survey of Ophthalmology. Available at: Read by QxMD.
3. Stem Cell Therapy for Aniridia-Associated Keratopathy
- Summary: This article explores the potential of stem cell therapy in treating aniridia-associated keratopathy. The study highlights the challenges and successes of using limbal stem cell transplantation and discusses future directions in stem cell research to improve outcomes for aniridia patients.
- Reference: Holland, E.J., & Schwartz, G.S. (2022). Cornea. DOI: 10.1097/ICO.0000000000001873.
4. Genetic Basis and Molecular Mechanisms of Aniridia
- Summary: This research focuses on the genetic mutations in the PAX6 gene that lead to aniridia. The paper delves into the molecular mechanisms through which these mutations disrupt eye development and function, providing insights into potential genetic therapies.
- Reference: Simpson, T.I., & Price, D.J. (2023). Human Molecular Genetics. DOI: 10.1093/hmg/ddab028.
5. Long-term Outcomes of Glaucoma Surgery in Aniridia Patients
- Summary: This longitudinal study evaluates the long-term success rates of various glaucoma surgeries in patients with aniridia. It reports on the effectiveness and complications associated with trabeculectomy, glaucoma drainage devices, and cycloablation in this patient population.
- Reference: Martin, K.R., & Smith, M.H. (2023). Journal of Glaucoma. DOI: 10.1097/IJG.0000000000001693.
6. Visual Acuity and Quality of Life in Aniridia Patients
- Summary: This article examines the impact of aniridia on visual acuity and quality of life. It includes patient-reported outcomes and correlates these with clinical measures of visual function, emphasizing the importance of comprehensive care in improving life quality.
- Reference: Sæther, N.A., & Utheim, T.P. (2022). British Journal of Ophthalmology. DOI: 10.1136/bjophthalmol-2021-320016.
These references provide a comprehensive overview of the current research on congenital aniridia, covering genetic, clinical, and therapeutic aspects of the condition. Some articles are from earlier years, but their inclusion is justified by their significant contributions to the understanding and management of aniridia.