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Updated: May 28, 2025
A Murine Model of Ischemic Retinal Injury Induced by Transient Bilateral Common Carotid Artery Occlusion
Published on: November 12, 2020
Sequential central retinal artery occlusion in two brothers: a fight to prevent blindness
David Oliver-Gutierrez1, Olaia Subirà2, Ana Zabalza3,4
1Ophthalmology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. davidoliguti@gmail.com.
Importance:
Central retinal artery occlusion (CRAO) is typically associated with older patients with cardiovascular risk factors. However, its occurrence in younger patients without these risk factors suggests the need to explore rare genetic conditions. Identifying genetic disorders like adenosine deaminase 2 deficiency (DADA2), a vasculitic disease, can be critical in such cases to prevent further complications.
Objective:
To report the challenging diagnosis of two cases of CRAO in brothers under the age of 40, leading to the diagnosis of DADA2, a rare genetic vasculitic disorder.
Results:
A 34-year-old man and his 32-year-old brother, both without significant medical histories, presented with CRAO eight years apart. Extensive diagnostic evaluations, including blood tests, imaging, and autoimmunity panels, failed to identify common causes. Progressive neurological symptoms in the older brother and the similar presentation in his sibling led to further investigation, including genetic testing. A homozygous mutation c.752C > T p.(Pro251Leu) in the CECR1 gene confirmed the diagnosis of DADA2 in both brothers.
Conclusion:
These cases underscore the importance of considering genetic disorders like DADA2 in young patients presenting with unexplained vascular occlusions. DADA2, characterized by vasculitis, immune dysregulation, and hematologic disorders, can manifest variably, complicating early diagnosis. Effective treatment with TNF inhibitors can prevent further vision loss and mitigate systemic complications. To our knowledge, these are the first reported cases of DADA2 with CRAO as the initial manifestation without prior clinical findings.
Insights
Central retinal artery occlusion (CRAO) in young patients may signal rare genetic conditions like DADA2. This report details two brothers diagnosed with DADA2 after presenting with CRAO, highlighting the need for genetic testing in unexplained vascular cases.
Area of Science:
- Ophthalmology
- Genetics
- Rheumatology
Background:
- Central retinal artery occlusion (CRAO) is typically seen in older individuals with cardiovascular risk factors.
- Younger patients with CRAO and no traditional risk factors warrant investigation for rare genetic disorders.
- Adenosine deaminase 2 deficiency (DADA2) is a rare vasculitic disease that can present with vascular occlusions.
Purpose of the Study:
- To report two cases of CRAO in young brothers.
- To highlight the diagnostic challenges in identifying DADA2.
- To emphasize the importance of genetic testing for rare vasculitic disorders presenting as CRAO.
Main Methods:
- Case report of two brothers presenting with CRAO.
- Extensive diagnostic workup including blood tests, imaging, and autoimmunity panels.
- Genetic testing to identify mutations in the CECR1 gene.
Main Results:
- Two brothers, aged 34 and 32, presented with CRAO eight years apart, with no significant prior medical history.
- Initial extensive evaluations did not reveal common causes for CRAO.
- Genetic testing confirmed a homozygous mutation in the CECR1 gene, diagnosing DADA2 in both patients.
Conclusions:
- Young patients with unexplained CRAO should be evaluated for genetic disorders like DADA2.
- DADA2 diagnosis can be challenging due to variable manifestations and can present initially as CRAO.
- Early diagnosis and treatment with TNF inhibitors are crucial for preventing vision loss and systemic complications in DADA2.
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