Rare, congenital retinal vascular hamartoma
Very rare, and cannot be accurately specified as many patients are asymptomatic and do not seek ophthalmic care.
• Sporadic and autosomal dominant forms are recognized.
• Neuro-oculo-cutaneous phacomatosis:
– Autosomal dominant with high penetrance and variable expressivity
– Also referred to as:
– Familial cavernous malformations of the central nervous systems (CNS) and retina
– Cavernoma multiplex
– Multiple cavernous hemangiomas more likely in familial cases
– Familial cerebral cavernous malformations (CCM) have been mapped to three loci: 7q21-q22 (CCM1), 7p15-p13 (CCM2), and 3q25.2-q27 (CCM3).
This is a genetic condition.
COMMONLY ASSOCIATED CONDITIONS
• Cavernous hemangiomas of the CNS
• Cutaneous vascular hamartomas
• Decreased visual acuity and floaters; however, patients are frequently asymptomatic
• Seizures, headaches, intracranial hemorrhage, and progressive focal neurologic deficits can be observed in cases involving the CNS (as part of the above neuro-oculo-cutaneous phacomatosis).
• Grape-like clusters of saccular dilatations filled with dark (venous) blood arising from the inner retina or optic nerve surface
• Overlying gliosis/fibrosis
• Associated epiretinal membranes
• Enlarged feeding or draining vessels characteristically absent
• Typically unilateral
DIAGNOSTIC TESTS & INTERPRETATION
• Fluorescein angiography is very helpful in confirming the diagnosis
– Characteristically patients have delayed filling
– Plasma/fluorescein-erythrocyte level may be seen within saccules
– Characteristic absence of leakage may be observed
• Neuroimaging (MRI brain is the preferred imaging modality)
Sessile tumor composed of multiple, dilated, thin collagenous walled vascular spaces lined by nonfenestrated endothelium with surface gliosis
• Retinal telangiectasis (e.g., coats disease)
• Retinal hemangioblastoma
• Racemose angioma
• Normally no treatment required
• Laser photocoagulation and/or vitrectomy used in select cases of vitreous hemorrhage
• Neurological/neurosurgical consultation
• Dermatologic consultation
• Screening required for systemic and familial involvement.
– Detailed family history, ophthalmologic, neurologic (including neuroimaging studies), and dermatologic examinations
– First-degree relatives should be screened if diagnosis of neuro-oculo-cutaneous phacomatosis suggestive by patient examination or family history
• Visual loss is uncommon. Most patients are asymptomatic
• Nonprogressive; may undergo spontaneous thrombosis
• No treatment is required
• Vitreous hemorrhage
• Decreased visual acuity secondary to macular location
• Epiretinal membrane formation
• Intracranial hemorrhage secondary to cavernous hemangioma of the CNS
• Gass JDM. Cavernous hemangioma of the retina: A neuro-oculo-cutaneous syndrome. Am J Ophthalmol 1971;71:799–814.
• Goldberg RE, Pheasant TR, Shields JA. Cavernous hemangioma of the retina: A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement. Arch Ophthalmol 1979;97:2321–2324.
• Dobyns WB, Michels VV, Groover RV, et al. Familial cavernous malformations of the central nervous system and retina. Ann Neurol 1987;21:578–583.
• Pancurak J, Goldberg MF, Frenkel M, et al. Cavernous hemangioma of the retina: Genetic and central nervous system involvement. Retina 1985;5:215–220.
• Sarraf D, Payne AM, Kitchen ND, et al. Familial cavernous hemangioma: An expanding ocular spectrum. Arch Ophthalmol 2000;118:969–973.
• Singh AD, Rundle PA, Rennie I. Retinal vascular tumors. Ophthalmol Clin N Am 2005;18:167–176.
• Kitzmann AS, Pulido JS, Ferber MJ, et al. A splice mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma. Ophthalmic Genet 2006;27:157–159.
• 228.03 Hemangioma of retina
• 757.32 Vascular hamartomas
• 759.6 Other congenital hamartoses, not elsewhere classified
• The “grape-like” cluster seen with fluorescein angiography with classic fluorescein and erythrocyte levels is typical of this disease.