Angioid Streaks

A number sign (#) is used with this entry because angioid streaks, in addition to being a hallmark of pseudoxanthoma elasticum (PXE; 264800), occur in other settings.

As the designation indicates, angioid streaks are vessel-like streaks in the ocular fundus. They have been shown to be due to cracking (crazing) in the Bruch membrane behind the retina. At least 50% of patients with angioid streaks have other evidence of pseudoxanthoma elasticum (in the skin and arteries, for example). Progression of the eye involvement with retinal hemorrhages can lead to blindness (Paton, 1972).

Clarkson and Altman (1982) listed 14 systemic disorders associated with angioid streaks. The conditions most often associated with angioid streaks are Paget disease of bone (see 167250) and sickle cell anemia (603903) (Geeraets and Guerry, 1960) and thalassemia (see 141900) (Aessopos et al., 1989). Other frequently associated disorders include tumoral calcinosis with hyperphosphatemia (211900), hemochromatosis (235200), and lead poisoning.

Green et al. (1966) found typical angioid streaks in 2 of 6 affected members of a kindred with Ehlers-Danlos syndrome (see 130000). Although the diagnosis of both angioid streaks and Ehlers-Danlos syndrome seems unequivocal, the association may have been coincidental because the association has not been described by others (McKusick, 2002).

Gorin et al. (1994) described a 32-year-old Jewish male and a 36-year-old Japanese female who had abetalipoproteinemia (200100) associated with angioid streaks. The association had previously been noted by Muller and Lloyd (1982) and Dieckert et al. (1989). Gorin et al. (1994) suggested that a common metabolic pathway involving trace element deficiencies may account for the association with abetalipoproteinemia and certain other rare disorders.

Choroidal neovascularization is the major cause of vision loss associated with angioid streaks. The pathogenesis of choroidal neovascularization associated with angioid streaks is believed to be related to cracks in the Bruch membrane, which allow new vessels to invade the subretinal space. Karacorlu et al. (2002) found that photodynamic therapy using verteporfin generally achieved short-term cessation of or decrease of fluorescein leakage from subfoveal choroidal neovascularization without loss of vision in patients with angioid streaks. No photodynamic therapy-related ocular complications were reported in any case in this study.