EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW
The purpose of this case report and literature review is to describe a case of Adie's pupil associated with variant Dandy-Walker complex (DWC) and to review the literature on the ocular manifestations of Dandy-Walker syndrome and variant Dandy-Walker syndrome. A literature search was conducted...
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| Format: | Article |
| Language: | English |
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Associazione Italiana Giovani Medici
2023-10-01
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| Series: | Euromediterranean Biomedical Journal |
| Subjects: | |
| Online Access: | http://www.embj.org/wp-content/uploads/2023/10/Carnazzo_22.pdf |
| _version_ | 1797667825115987968 |
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| author | Salvatore Michele Carnazzo |
| author_facet | Salvatore Michele Carnazzo |
| author_sort | Salvatore Michele Carnazzo |
| collection | DOAJ |
| description | The purpose of this case report and literature review is to describe a case of Adie's pupil associated with variant Dandy-Walker complex (DWC) and to review the literature on the ocular manifestations of Dandy-Walker syndrome and variant Dandy-Walker syndrome. A literature search was conducted using the Pubmed database following the PRISMA guidelines. Inclusion criteria were radiologically confirmed Dandy Walker or Dandy Walker variant patients with ocular anatomical and functional anomalies. Overall, 48 studies met the inclusion criteria for this review, with a total of 634 patients diagnosed with Dandy-Walker syndrome and variant Dandy-Walker syndrome exhibiting a wide range of ocular manifestations. Microphthalmia was the most frequently reported abnormality, while megalocornea was less frequently reported. Of the 48 studies included, only one reported a case of Adie's pupil associated with variant Dandy-Walker complex, as presented in the case report. Ocular involvement in patients with Dandy-Walker syndrome and variant Dandy-Walker syndrome is rare. The authors present a case of variant Dandy-Walker complex associated with Adie's pupil, which has not been reported in the literature previously. The literature review confirms that ocular manifestations are rare but can occur in patients with Dandy-Walker syndrome and variant Dandy-Walker syndrome. Therefore, it is important for clinicians to evaluate patients with these malformations for possible ocular involvement |
| first_indexed | 2024-03-11T20:19:04Z |
| format | Article |
| id | doaj.art-2e4defbb814340b8ace93b4c429c3c41 |
| institution | Directory Open Access Journal |
| issn | 2279-7165 |
| language | English |
| last_indexed | 2024-03-11T20:19:04Z |
| publishDate | 2023-10-01 |
| publisher | Associazione Italiana Giovani Medici |
| record_format | Article |
| series | Euromediterranean Biomedical Journal |
| spelling | doaj.art-2e4defbb814340b8ace93b4c429c3c412023-10-03T08:27:21ZengAssociazione Italiana Giovani MediciEuromediterranean Biomedical Journal2279-71652023-10-01182210310710.3269/1970-5492.2023.18.22EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEWSalvatore Michele Carnazzo0https://orcid.org/0009-0006-2557-9559University Hospital “Policlinico-San Marco of CataniaThe purpose of this case report and literature review is to describe a case of Adie's pupil associated with variant Dandy-Walker complex (DWC) and to review the literature on the ocular manifestations of Dandy-Walker syndrome and variant Dandy-Walker syndrome. A literature search was conducted using the Pubmed database following the PRISMA guidelines. Inclusion criteria were radiologically confirmed Dandy Walker or Dandy Walker variant patients with ocular anatomical and functional anomalies. Overall, 48 studies met the inclusion criteria for this review, with a total of 634 patients diagnosed with Dandy-Walker syndrome and variant Dandy-Walker syndrome exhibiting a wide range of ocular manifestations. Microphthalmia was the most frequently reported abnormality, while megalocornea was less frequently reported. Of the 48 studies included, only one reported a case of Adie's pupil associated with variant Dandy-Walker complex, as presented in the case report. Ocular involvement in patients with Dandy-Walker syndrome and variant Dandy-Walker syndrome is rare. The authors present a case of variant Dandy-Walker complex associated with Adie's pupil, which has not been reported in the literature previously. The literature review confirms that ocular manifestations are rare but can occur in patients with Dandy-Walker syndrome and variant Dandy-Walker syndrome. Therefore, it is important for clinicians to evaluate patients with these malformations for possible ocular involvementhttp://www.embj.org/wp-content/uploads/2023/10/Carnazzo_22.pdfdandy-walker complexposterior cranial fossa malformationadie's pupilocular malformationsfoxc1 gene |
| spellingShingle | Salvatore Michele Carnazzo EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW Euromediterranean Biomedical Journal dandy-walker complex posterior cranial fossa malformation adie's pupil ocular malformations foxc1 gene |
| title | EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW |
| title_full | EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW |
| title_fullStr | EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW |
| title_full_unstemmed | EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW |
| title_short | EXPLORING THE POTENTIAL ASSOCIATION BETWEEN DANDY WALKER SYNDROME AND ADIE'S PUPIL: A COMPREHENSIVE CASE STUDY AND SYSTEMATIC LITERATURE REVIEW |
| title_sort | exploring the potential association between dandy walker syndrome and adie s pupil a comprehensive case study and systematic literature review |
| topic | dandy-walker complex posterior cranial fossa malformation adie's pupil ocular malformations foxc1 gene |
| url | http://www.embj.org/wp-content/uploads/2023/10/Carnazzo_22.pdf |
| work_keys_str_mv | AT salvatoremichelecarnazzo exploringthepotentialassociationbetweendandywalkersyndromeandadiespupilacomprehensivecasestudyandsystematicliteraturereview |