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Retinal manifestations in fibromuscular dysplasia
F M Meire1, J J De Laey, M N Van Thienen
1Department of Ophthalmology, University Hospital of Ghent, Belgium.
Abstract:
Fibromuscular dysplasia of the arteries (FMD) is a segmental angiopathy which may produce obstruction of the carotid, cerebral, renal, mesenteric, coronary or iliac arteries. Except for lesions related to arterial hypertension, retinal manifestations have not yet been reported. This paper describes the case of a 10-year-old boy with progressive deafness, a history of an unexplained stroke and progressive occlusions of the retinal arterioles in the fundus periphery. This resulted in retinal neovascularization and recurrent retinal and vitreous hemorrhages. Despite repeated photo- and cryocoagulation the eyes progressed to a tractional retinal detachment which was successfully treated by vitrectomy and scleral buckling. The diagnosis of FMD was made on the basis of a histopathological examination of a temporal artery biopsy. The child also presented an asymptomatic but severe aneurysmal dilatation of the aorta and CT scan and MRI showed dilated cerebral arteries. The father of our patient had died at the age of 27 years either from myocardial infarction or rupture of a dissecting aortic aneurysm. He was highly myopic and had lost one eye from retinal detachment. The younger brother of our patient also presents aneurysmal dilatation of the aorta and tortuous cerebral vessels. Ocular examination is still normal. The findings in this family are compatible with an autosomal dominant inheritance with variable expression.
Insights
Fibromuscular dysplasia (FMD) can affect retinal arteries, causing vision loss, even in children. This rare condition may also involve aortic and cerebral artery aneurysms, suggesting a genetic link.
Area of Science:
- Vascular Biology
- Ophthalmology
- Genetics
Background:
- Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory arterial disease.
- It typically affects medium and large arteries, commonly the renal and carotid arteries.
- Retinal manifestations in FMD are exceptionally rare, with no prior reports in pediatric cases.
Observation:
- A 10-year-old boy presented with progressive hearing loss, stroke history, and peripheral retinal arteriolar occlusions.
- The patient developed neovascularization, recurrent hemorrhages, and tractional retinal detachment, requiring surgical intervention.
- Histopathological confirmation of FMD was obtained from a temporal artery biopsy.
Findings:
- The patient exhibited severe aortic aneurysm and dilated cerebral arteries.
- Family history revealed premature death in the father due to cardiovascular events and vision loss from retinal detachment.
- A sibling presented with aortic dilatation and tortuous cerebral vessels, indicative of a potential inherited disorder.
Implications:
- This case highlights previously unreported retinal vascular complications in pediatric fibromuscular dysplasia.
- The familial pattern suggests autosomal dominant inheritance with variable expressivity, impacting multiple vascular beds.
- Ophthalmologic surveillance is crucial in children diagnosed with FMD, especially those with a family history of vascular disease.