Table 4.

Miscellanous angiopathies of the central nervous system with ocular manifestations.

Disease	Ocular manifestations	Mechanism of angiopathy	Transmission
Neurofibromatosis I	Neurofibromas, iris Lish nodules, optic nerve gliomas, retinal hamartomas	Arterial dissections, aneurysms, fistulae ganglioneuromas, neurofibromas	Autosomal dominant
von Hippel-Lindau syndrome	Retinal angiomas	Cerebellar, brainstem, and spinal cord hemangioblastoma	Autosomal dominant
Tuberous sclerosis (Bourneville disease)	Retinal hamartomas	Intracranial aneurysms, moyamoya syndrome	Autosomal dominant
Rendu-Osler-Weber syndrome (hereditary hemorrhagic telangiectasia)	Retinal telangiectasia	Arteriovenous malformations, venous angiomas, aneurysms, meningeal telangiectasia	Autosomal dominant
Sturge-Weber syndrome (encephalofacial angiomatosis)	Skin, conjunctiva, episclera, uveal angiomas; glaucoma	Leptomeningeal venous angioma, arteriovenous malformations, venous and dural sinus abnormalities	Possibly autosomal dominant Mostly sporadic
Wyburn-Mason syndrome (Racemose angioma)	Retinal arteriovenous malformations	Cerebral arteriovenous malformations (usually brainstem)	Sporadic
Ataxia-telangiectasia (Louis-Bar syndrome)	Oculocutaneous telangiectasia	Telangiectasia	Autosomal recessive
Marfan syndrome	Lens subluxation, retinal detachment	Aneurysms, aortic dissection	Autosomal dominant
Fibromuscular dysplasia	Retinal emboli	Arterial stenosis, arterial dissections aneurysms, carotid cavernous fistula	Possibly autosomal dominant Mostly sporadic
Ehler-Danlos syndrome (type IV)	Ocular ischemia, angioid streaks	Aneurysms, carotid cavernous fistula carotid or vertebral artery dissection	Heterogeneous
Pseudoxanthoma elasticum (Gronblad-Strandberg syndrome)	Angioid streaks, peau d’orange fundus	Premature atherosclerosis, aneurysms, carotid cavernous fistula	Heterogenous
Moyamoya syndrome	Morning glory disc, ocular ischemia	Nonintlammatory occlusive intra-cranial vasculopathy.	May be associated with other hereditary disorders
Menkes syndrome (Kinky hair disease)	Ocular ischemia	Tortuosity, elongation and occlusion of cerebral arteries	X-Linked recessive
Fabry disease (angiokeratoma corporis diffusum)	Whorl-like corneal opacification, tortuosity of vessels	Glycosphingolipid deposit in endothelial cells, cerebral aneurysms	X-Linked recessive
Homocystinuria and homocysteinemia	Retinal ischemia, lens subluxation	Premature atherosclerotic occlusion of carotid arteries and large cerebral arteries	Autosomal recessive
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)	Valcular retinopathy	Non atherosclerotic, nonamyloidotic angiopathy of leptomeningeal and small penetrating arteries	Autosomal dominant
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes)	Optic atrophy, chronic progressive external ophthalmoplegia, pigmentary retinopathy	Proliferation of mitochondria in smooth muscle cells of cerebral vessels	Maternally inherited (point mutation in mitochondrial DNA)