Branch retinal vein occlusion as a manifestation of systemic vasculopathy in CADASIL: a multimodal imaging case...

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease linked to NOTCH3 gene mutations.
• While primarily affecting cerebral arterioles, CADASIL shows increasing evidence of systemic vascular involvement.
• Ocular manifestations, specifically retinal venous abnormalities like branch retinal vein occlusion (BRVO), are rare and poorly understood in CADASIL.

Purpose of the Study:

• To report a rare case of branch retinal vein occlusion (BRVO) in a patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
• To emphasize the potential for CADASIL-related vasculopathy to affect the retinal venous system.
• To highlight the significance of ocular imaging in recognizing systemic microvascular disease.

Main Methods:

• Case report of a 63-year-old male with decreased vision and floaters.
• Multimodal ocular imaging to assess retinal abnormalities.
• Genetic testing to confirm NOTCH3 gene variants.

Main Results:

• The patient presented with macular edema, intraretinal hemorrhages, and superior temporal BRVO.
• Genetic analysis confirmed a pathogenic NOTCH3 variant (c.317G>A; p.Cys106Tyr).
• The patient received intravitreal bevacizumab and dexamethasone implants for management.

Conclusions:

• CADASIL can manifest with retinal venous system involvement, such as BRVO.
• Ocular examination and imaging are crucial for identifying systemic microvascular disease in CADASIL.
• BRVO may be an underrecognized sign of CADASIL, necessitating regular ophthalmic screening and collaborative care.