Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis
Abstract Purpose To report a case of two monozygotic twins presenting with simultaneous onset of bilateral uveitis of variable phenotypic presentations, one of whom was pathologically confirmed to have sarcoidosis. Observation Two 21-year-old monozygotic male twins (Twin A and Twin B) presented with...
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SpringerOpen
2025-05-01
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| Series: | Journal of Ophthalmic Inflammation and Infection |
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| Online Access: | https://doi.org/10.1186/s12348-025-00504-7 |
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| author | Doaa Maamoun Ashour Reem Mohsen Rahma A. Elziaty Omnia Bahaa Attia Haytham Samy Diab Caroline Atef Tawfik |
| author_facet | Doaa Maamoun Ashour Reem Mohsen Rahma A. Elziaty Omnia Bahaa Attia Haytham Samy Diab Caroline Atef Tawfik |
| author_sort | Doaa Maamoun Ashour |
| collection | DOAJ |
| description | Abstract Purpose To report a case of two monozygotic twins presenting with simultaneous onset of bilateral uveitis of variable phenotypic presentations, one of whom was pathologically confirmed to have sarcoidosis. Observation Two 21-year-old monozygotic male twins (Twin A and Twin B) presented with bilateral red eyes and photophobia of six weeks’ duration. Their past medical history included learning difficulties and low IQ since early childhood. Twin A was operated for Celiac Artery Compression Syndrome. Examination and work-up revealed that Twin A had bilateral anterior granulomatous uveitis, and retinal phlebitis in addition to hilar and mediastinal lymphadenopathy. A biopsy was taken, and histopathological examination showed non-caseating granuloma. Twin B had bilateral non-granulomatous anterior uveitis, chorioretinal lesions, and peripheral retinal vasculitis. Genetic testing in the form of a Whole Exome Sequencing was done, and no causal variant was detected for uveitis or sarcoidosis, however, a homozygous likely pathogenic duplication in SYNGAP1 was detected. This mutation is associated with autosomal dominant intellectual developmental disorder. Conclusion This is the first-reported case of concurrent bilateral uveitis in monozygotic twins, with confirmed sarcoidosis in one. This presentation highlights the role of genetic predisposition and shared environmental factors in disease onset and clinical manifestations. Further research into the genetic-environmental interplay is needed to elucidate the mechanisms underlying simultaneous disease onset and guide personalized monitoring strategies for at-risk families. |
| format | Article |
| id | doaj-art-f4cc9d9f95d04b2e918652fcf42a35b6 |
| institution | DOAJ |
| issn | 1869-5760 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Journal of Ophthalmic Inflammation and Infection |
| spelling | doaj-art-f4cc9d9f95d04b2e918652fcf42a35b62025-08-20T03:22:11ZengSpringerOpenJournal of Ophthalmic Inflammation and Infection1869-57602025-05-011511710.1186/s12348-025-00504-7Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosisDoaa Maamoun Ashour0Reem Mohsen1Rahma A. Elziaty2Omnia Bahaa Attia3Haytham Samy Diab4Caroline Atef Tawfik5Department of Ophthalmology, Faculty of Medicine, Ain Shams UniversityDepartment of Ophthalmology, Faculty of Medicine, Ain Shams UniversityRheumatology Division, Department of Internal Medicine, Faculty of Medicine, Ain Shams UniversityRheumatology Division, Department of Internal Medicine, Faculty of Medicine, Ain Shams UniversityPulmonary Medicine and Interventional Pulmonology, Faculty of Medicine, Ain Shams UniversityDepartment of Ophthalmology, Faculty of Medicine, Ain Shams UniversityAbstract Purpose To report a case of two monozygotic twins presenting with simultaneous onset of bilateral uveitis of variable phenotypic presentations, one of whom was pathologically confirmed to have sarcoidosis. Observation Two 21-year-old monozygotic male twins (Twin A and Twin B) presented with bilateral red eyes and photophobia of six weeks’ duration. Their past medical history included learning difficulties and low IQ since early childhood. Twin A was operated for Celiac Artery Compression Syndrome. Examination and work-up revealed that Twin A had bilateral anterior granulomatous uveitis, and retinal phlebitis in addition to hilar and mediastinal lymphadenopathy. A biopsy was taken, and histopathological examination showed non-caseating granuloma. Twin B had bilateral non-granulomatous anterior uveitis, chorioretinal lesions, and peripheral retinal vasculitis. Genetic testing in the form of a Whole Exome Sequencing was done, and no causal variant was detected for uveitis or sarcoidosis, however, a homozygous likely pathogenic duplication in SYNGAP1 was detected. This mutation is associated with autosomal dominant intellectual developmental disorder. Conclusion This is the first-reported case of concurrent bilateral uveitis in monozygotic twins, with confirmed sarcoidosis in one. This presentation highlights the role of genetic predisposition and shared environmental factors in disease onset and clinical manifestations. Further research into the genetic-environmental interplay is needed to elucidate the mechanisms underlying simultaneous disease onset and guide personalized monitoring strategies for at-risk families.https://doi.org/10.1186/s12348-025-00504-7Uveitis in twinsOcular sarcoidosisFamilial uveitisConcurrent uveitis |
| spellingShingle | Doaa Maamoun Ashour Reem Mohsen Rahma A. Elziaty Omnia Bahaa Attia Haytham Samy Diab Caroline Atef Tawfik Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis Journal of Ophthalmic Inflammation and Infection Uveitis in twins Ocular sarcoidosis Familial uveitis Concurrent uveitis |
| title | Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis |
| title_full | Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis |
| title_fullStr | Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis |
| title_full_unstemmed | Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis |
| title_short | Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis |
| title_sort | concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis |
| topic | Uveitis in twins Ocular sarcoidosis Familial uveitis Concurrent uveitis |
| url | https://doi.org/10.1186/s12348-025-00504-7 |
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