Ocular vascular hamartomas: the relationship with phakomatoses and possible commonalities in pathogenesis.
BACKGROUND
Ocular vascular hamartomas may present as isolated lesions or as part of a multisystemic congenital syndrome known as vascular phakomatoses. These syndromes are characterized by ocular, cerebral, and cutaneous lesions. Although each of these lesions manifests distinct characteristics, there may be overlapping characteristics and manifestations attributable to a common pathogenesis.


METHODS
A case series and a literature review are presented illustrating ocular and systemic manifestations associated with vascular hamartomas, with each case representing varying degrees of ocular and systemic expression.


CONCLUSIONS
Because of the potential ocular morbidity and systemic mortality associated with vascular hamartomas and associated syndromes, the optometrist plays an important role in the management of these patients. In general, understanding the pathogenesis of these diseases may contribute to future treatment and prevention opportunities.
Shechtman
Diana
D
Health Professions Division, College of Optometry, Nova Southeastern University College of Optometry, 3200 South University Drive, Ft. Lauderdale, FL 33328, USA. dianashe@nova.edu
Vollmer
Lori
L
Sowka
Joseph
J
D000328:Adult; D015862:Choroid Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006222:Hamartoma / Q000175:diagnosis*; D018324:Hemangioma, Capillary / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000175:diagnosis*