Cilio-optic vein associated with phakomatosis

Area of Science:

• Ophthalmology
• Medical Imaging
• Vascular Biology

Background:

• Congenital anomalies of optic disc vasculature can present diagnostic challenges.
• Understanding these variations is crucial for accurate clinical assessment and management.
• Phakomatosis syndromes, such as neurofibromatosis and Sturge-Weber syndrome, can involve atypical vascular formations.

Observation:

• Fluorescein angiography reveals characteristic lamellar filling of congenital cilio-optic veins in the early choroidal phase.
• These enlarged vessels originate at the optic disc edge and extend into the optic nerve, anastomosing with central retinal vein branches.
• A secondary type of vascular communication, the retinociliary vein, draining retinal circulation into the choroidal vasculature, is also presented.

Findings:

• Both cilio-optic veins and retinociliary veins exhibit a branching hypofluorescent pattern extending from the optic disc into the choroid.
• Bilateral simultaneous angiography can effectively demonstrate these findings when present bilaterally.
• The observed vascular patterns are associated with underlying phakomatosis in the affected patients.

Implications:

• Accurate identification of these anomalous vessels via fluorescein angiography is essential to avoid misdiagnosis.
• Distinguishing these from optociliary shunts, disc neovascularization, cilioretinal arteries, or arteriovenous shunts is clinically significant.
• Recognition of these anomalies can aid in the diagnosis and management of associated phakomatosis syndromes.