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Fundus examination [Fig.1.] showed multiple irregular crack lines radiating outward from the peripapillary areas seen in both eyes suggestive of angioid streaks. In right eye one of these streaks passed through the fovea and was associated with a small, grayish, subfoveal lesion with a surrounding subretinal bleed.
Choroidal neovascularization secondary to angioid streaks: A familial case report.
Genotypes of the Patients with Angioid Streaks. Among the 18 families, ABCC6 variants were identified in compound heterozygous or homozygous states in 13 probands and in heterozygous states in four probands, while no variants were identified in one proband (Table 1).
Currently, diagnosis of PXE relies on clinical examination for characteristic skin lesions and angioid streaks or von Kossa staining of a biopsy of skin lesions looking for calcification of dystrophic dermal elastic fibres.10
(3) Risk of cardiovascular disease may correlate with the presence of angioid streaks of the fundus--irregular, reddish-brown, or gray lines radiating from the optic disc.
These patients were found to bear angioid streaks and skin lesions similar to those observed in PXE.
Caption: Figure 4 Angioid streaks. Image by Steven Co hen (2010), Retina Gallery
Katagiri and colleagues demonstrate in 20 patients with angioid streaks that ABCC6 variants play a significant role in affected Japanese individuals.
(1) The most important fundus finding is angioid streaks. Other important ocular findings include peau d'orange (orange peel) appearance, optic disc drusen, pattern dystrophy-like appearance, comet lesions and choroidal neovascularization (CNV).
The changes in Bruch's membrane give rise to angioid streaks, and rupture of the retinal vessels to hemorrhages and choroiditis.
The most important finding of PXE in the fundus is angioid streaks. Other important ocular findings include peau d'orange, optic disc drusen, pattern dystrophy appearance, comet lesions and choroidal neovascularization.
Five of the most common causes are exudative macular degeneration, high/ pathological myopia, choroidal rupture, angioid streaks, and punctate inner choroidopathy.