Pseudoxanthoma Elasticum
Color retinographies (Clarus 500, Carl Zeiss) of the right and left eyes showing optic nerve drusen, angioid striae originating from the optic nerve, orange peel pigmentary changes in the temporal retina, and macular pigmentary alterations (disciform scar in the right eye secondary to choroidal neovascularization, and pattern changes with areas of geographic atrophy in the left eye).
Color retinographies (Clarus 500, Carl Zeiss) of the right and left eyes showing optic nerve drusen, angioid striae originating from the optic nerve, orange peel pigmentary changes in the temporal retina, and macular pigmentary alterations (disciform scar in the right eye secondary to choroidal neovascularization, and pattern changes with areas of geographic atrophy in the left eye).
Autofluorescence (Clarus 500, Carl Zeiss) of the right and left eyes showing hyperautofluorescent optic nerve drusen, hypo/hyperautofluorescent angioid striae, hyperautofluorescent macular pigmentary changes without regard to the peripapillary retina, and hypoautofluorescence in areas of geographic atrophy and disciform scar.
Autofluorescence (Clarus 500, Carl Zeiss) of the right and left eyes showing hyperautofluorescent optic nerve drusen, hypo/hyperautofluorescent angioid striae, hyperautofluorescent macular pigmentary changes without regard to the peripapillary retina, and hypoautofluorescence in areas of geographic atrophy and disciform scar.
Macular optical coherence tomography (Cirrus 5000, Carl Zeiss) of the right eye, showing a large disciform scar with intraretinal fluid.
Macular optical coherence tomography (Cirrus 5000, Carl Zeiss) of the left eye, showing pigment epithelium hypertrophy in relation to pattern changes observed in the fundus.
Optical coherence tomography (Cirrus 5000, Carl Zeiss) of the optic disc of the left eye, showing intrapapillary areas without intensity, compatible with optic nerve drusen.
Image in face of the macular optical coherence tomography (Cirrus 5000, Carl Zeiss) of the left eye at the level of the ellipsoid, better showing the macular pigmentary changes.
Description
The pseudoxant homa Elasticum is an inherited metabolic disease in which a ectopic mineralization in different areasorgans . The mutation of the ABCC6 gene leads to the appearancen of depor sites c álicicos that is evident mainly in tissues with abundant fibers thePhysical systems such as the skin, eyes, and cardiovascular system . Angioid stretch marks and neovascularizationThe resulting choroidal manifestations represent the ophthalmic manifestations ormore logical characteristics. AdemIn addition, it may be associated with optic nerve drusen , a diffuse mottling in the mid-periphery temporal region of the retina at the level of the pigment epithelium known as “ skin of ‘orange ” , macular dystrophy in patternno subretinal fibrosis .