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Blau syndrome with persistent fetal vasculature: a case report
Miao Liu1, Yong Zeng2, Jie Zhong3
1School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Journal of Medical Case Reports
|June 29, 2023
Summary
Blau Syndrome (BS), a rare genetic disorder, can cause severe vision loss due to eye complications. Early detection and management of ocular involvement, including persistent fetal vasculature, are crucial for preserving sight in affected children.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Blau Syndrome (BS) is a rare autosomal dominant genetic disorder caused by NOD2 gene mutations.
- It presents with granulomatous dermatitis, arthritis, and uveitis, potentially leading to blindness if untreated.
- Early diagnosis of ocular involvement is critical for prognosis.
Observation:
- A five-year-old girl with BS presented with rash, urinary calculi, and significant ocular findings.
- Ocular manifestations included bilateral uveitis, corneal degeneration, and perivascular granuloma with persistent fetal vasculature (PFV) in the right eye.
- The left eye had no light perception (NLP).
Findings:
- Genetic testing confirmed a NOD2 gene mutation (c.1538T>C, p.M513T).
- Vitrectomy in the right eye significantly improved visual acuity, though posterior capsule opacification developed later.
- The case highlights the association of BS with PFV and severe ocular complications.
Implications:
- Prompt diagnosis and management of ocular complications in BS are vital to prevent vision loss.
- This case emphasizes the importance of ophthalmological monitoring in children diagnosed with Blau Syndrome.
- Timely intervention, including surgery, can improve visual outcomes in BS patients with ocular involvement.
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