Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia
Abstract Introduction Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Adis, Springer Healthcare
2025-01-01
|
| Series: | Ophthalmology and Therapy |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s40123-024-01084-w |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832586013695803392 |
|---|---|
| author | Jessica Obst Fabian N. Fries Maryam Amini Annamária Náray Cristian Munteanu Tanja Stachon Shweta Suiwal Neil Lagali Berthold Seitz Barbara Käsmann-Kellner Nóra Szentmáry |
| author_facet | Jessica Obst Fabian N. Fries Maryam Amini Annamária Náray Cristian Munteanu Tanja Stachon Shweta Suiwal Neil Lagali Berthold Seitz Barbara Käsmann-Kellner Nóra Szentmáry |
| author_sort | Jessica Obst |
| collection | DOAJ |
| description | Abstract Introduction Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry. Methods Our retrospective, monocentric study included patients who underwent a comprehensive ophthalmic examination at Saarland University Medical Center beginning in June 2003. Age, gender, genetic test results, and information on systemic anomalies were recorded. In addition, parents and affected patients were interviewed about developmental and other disease-related conditions. Results Data from 337 patients (mean age 22 ± 20 [0.3–90] years; 181 women [53.7%]) were analyzed. Genetic testing was performed in 187 (55.5%) patients. A PAX6 mutation was detected in 174 of 187 (93%) cases, of which 20 (10.7%) had WAGR(O) syndrome. Systemic diseases were detected in 155 of 337 (46%) patients, with the most common being obesity (29 [8.6%]), thyroid disease (28 [8.3%]), hypertension (26 [7.7%]), intellectual disability (22 [6.5%]), diabetes mellitus (19 [5.6%]), auditory perception disorder/speech development delay (16 [4.7%]), and epilepsy (12 [3.6%]). Conclusions A comprehensive analysis of patients with aniridia and systemic effects reveals the complexity of this rare disorder, which goes beyond ocular symptoms and can have profound effects on metabolic balance, cardiovascular health, and the central nervous system. Therefore, early genetic diagnosis, early systemic checkup, and adequate treatment, as well as cooperation with pediatrists, neurologists, and audiologists, is suggested in congenital aniridia, which should be considered a syndrome and not an isolated ocular disease. |
| format | Article |
| id | doaj-art-bb54f16832bb4d3bbd3ccbe4b3a6e6c0 |
| institution | Kabale University |
| issn | 2193-8245 2193-6528 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Adis, Springer Healthcare |
| record_format | Article |
| series | Ophthalmology and Therapy |
| spelling | doaj-art-bb54f16832bb4d3bbd3ccbe4b3a6e6c02025-01-26T12:18:51ZengAdis, Springer HealthcareOphthalmology and Therapy2193-82452193-65282025-01-0114243344510.1007/s40123-024-01084-wSystemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital AniridiaJessica Obst0Fabian N. Fries1Maryam Amini2Annamária Náray3Cristian Munteanu4Tanja Stachon5Shweta Suiwal6Neil Lagali7Berthold Seitz8Barbara Käsmann-Kellner9Nóra Szentmáry10Department of Ophthalmology, Saarland University Medical Center (UKS)Department of Ophthalmology, Saarland University Medical Center (UKS)Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland UniversityDr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland UniversityDepartment of Ophthalmology, Saarland University Medical Center (UKS)Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland UniversityDr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland UniversityDepartment of Biomedical and Clinical Sciences, Faculty of Medicine, Linköping UniversityDepartment of Ophthalmology, Saarland University Medical Center (UKS)Department of Ophthalmology, Saarland University Medical Center (UKS)Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland UniversityAbstract Introduction Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry. Methods Our retrospective, monocentric study included patients who underwent a comprehensive ophthalmic examination at Saarland University Medical Center beginning in June 2003. Age, gender, genetic test results, and information on systemic anomalies were recorded. In addition, parents and affected patients were interviewed about developmental and other disease-related conditions. Results Data from 337 patients (mean age 22 ± 20 [0.3–90] years; 181 women [53.7%]) were analyzed. Genetic testing was performed in 187 (55.5%) patients. A PAX6 mutation was detected in 174 of 187 (93%) cases, of which 20 (10.7%) had WAGR(O) syndrome. Systemic diseases were detected in 155 of 337 (46%) patients, with the most common being obesity (29 [8.6%]), thyroid disease (28 [8.3%]), hypertension (26 [7.7%]), intellectual disability (22 [6.5%]), diabetes mellitus (19 [5.6%]), auditory perception disorder/speech development delay (16 [4.7%]), and epilepsy (12 [3.6%]). Conclusions A comprehensive analysis of patients with aniridia and systemic effects reveals the complexity of this rare disorder, which goes beyond ocular symptoms and can have profound effects on metabolic balance, cardiovascular health, and the central nervous system. Therefore, early genetic diagnosis, early systemic checkup, and adequate treatment, as well as cooperation with pediatrists, neurologists, and audiologists, is suggested in congenital aniridia, which should be considered a syndrome and not an isolated ocular disease.https://doi.org/10.1007/s40123-024-01084-wCardiovascular anomaliesCongenital aniridiaHomburg Aniridia RegistryMetabolic syndromeMultidisciplinary treatmentNeurological anomalies |
| spellingShingle | Jessica Obst Fabian N. Fries Maryam Amini Annamária Náray Cristian Munteanu Tanja Stachon Shweta Suiwal Neil Lagali Berthold Seitz Barbara Käsmann-Kellner Nóra Szentmáry Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia Ophthalmology and Therapy Cardiovascular anomalies Congenital aniridia Homburg Aniridia Registry Metabolic syndrome Multidisciplinary treatment Neurological anomalies |
| title | Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia |
| title_full | Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia |
| title_fullStr | Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia |
| title_full_unstemmed | Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia |
| title_short | Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia |
| title_sort | systemic diseases in patients with congenital aniridia a report from the homburg registry for congenital aniridia |
| topic | Cardiovascular anomalies Congenital aniridia Homburg Aniridia Registry Metabolic syndrome Multidisciplinary treatment Neurological anomalies |
| url | https://doi.org/10.1007/s40123-024-01084-w |
| work_keys_str_mv | AT jessicaobst systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT fabiannfries systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT maryamamini systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT annamarianaray systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT cristianmunteanu systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT tanjastachon systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT shwetasuiwal systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT neillagali systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT bertholdseitz systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT barbarakasmannkellner systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia AT noraszentmary systemicdiseasesinpatientswithcongenitalaniridiaareportfromthehomburgregistryforcongenitalaniridia |