Bonnet-dechaume-blanc syndrome (cerebroretinal arteriovenous aneurysm syndrome; neuroretinoangiomatosis syndrome; wyburn-mason syndrome)   163

General: Dominant inheritance; unilateral or bilateral arteriovenous aneurysm of the midbrain with ipsilateral retinal angioma and skin nevi; severity and extent of symptoms depend on location of cerebral aneurysm and structures it may involve; not regarded as hereditary; incidence is equal in men and women; usually becomes symptomatic at age 30 years.

Ocular: Exophthalmos; ptosis; strabismus; nystagmus; hemianopsia due to lesion in optic tract or pulvinar; sluggish pupils; anisocoria; retinal arteriovenous aneurysm; varicosity of retinal veins; arteriovenous angiomas; papilledema; optic atrophy of fellow eye; vitreous hemorrhage; rubeosis iridis; optic neuropathy secondary to compression by vascular malformation; proptosis; partial ophthalmoplegia.

Clinical: Arteriovenous angiomas of the thalamus and mesencephalon; facial vascular and pigmented nevi, usually in the trigeminal distribution; psychic disturbances; slow and scanning speech; hydrocephalus; headache; dizziness; hemiplegia; congenital defects of bone, muscle, kidneys, and gastrointestinal tract.

Archer DB, et al. Arteriovenous communication of the retina. Am J Ophthalmol 1973; 75:224.

Bonnet P, et al. L'Anevrisme Cirsoide de la Retine (Anevrisme Racemeux): Ses Relations avec l'Anevrisme Cirsoide de la Face et l'Anevrisme-Cirsoide du Cerveau. Bull Mem Soc Franc Opht 1938; 51:521; ibid J Med Lyon 1937; 18:165.

Brodsky MC, et al. Bonnet-Dechaume-Blanc syndrome with large facial angioma. Arch Ophthalmol 1987; 105:854.

Ebert EM, Boger WP, Albert DM. Phakomatoses. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994:3317-3318.