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Diagnosis of pseudoxanthoma elasticum with OCT-SD pathognomonic findings- one case report without cardiovascular neither cutaneous manifestations

Poster Details

First Author: P.Fernandez Avellaneda SPAIN

Co Author(s):    M.P. Mendivil Soto   I. Bearan Maria   M. Ramos Barrios   I. Henares Fernandez   O. Guergué      0   0 0   0 0   0 0   0 0

Abstract Details


On the one hand, we want to highlight the presence of pathognomonic lesions of Pseudoxanthoma elasticum in the optical coherence tomography (OCT-SD), which allow the establishment of the diagnosis of this illness, without presentation of previous systemic manifestations. On the other hand, we want to show the behaviour of the autofluorescence (FAF) in these lesions.


Department of Ophthalmology, Hospital Universitario de Basurto. Bilbao, Spain.


Clinical and imaging characterization of a 40-year-old female patient who presented with decreased central vision in the right eye. She underwent complete ophthalmological examination including anamnesis, visual acuity assessment, slit-lamp examination , optical coherence tomography (OCT-SD) with fundus autofluorescence (FAF) and fluorescein angiography.


Slit-lamp examination was normal in both eyes. Fundoscopy in the right eye revealed a fibroglial lesion in macula accompanied by a peau d’orange pattern, streak angioids and 200 micra atrophic spots in mid-periphery. Funduscopy in the left eye was similar but without a macular fibroglial lesion. A complete blood and radiodiagnostic workup came out normal. Retinography and fluorescein angiography also did not give us more information. The OCT-SD in the RE showed a hyperreflective lesion in macula that could be compatible with an extended fibrosis. Above it, were cystic hyporeflective lesions that suggest the presence of a cystoid macula edema. The angioid streaks showed breaks in Bruch´s membrane. The mid peripheral chorioretinal atrophies showed hyporeflective lesions, which could be small intraretinal cysts with retinal pigment epithelium defects underneath. There are studies that suggest that these lesions are pathognomonic of Pseudoxanthoma elasticum. The FAF showed a characteristic dystrophy-like pattern. The intrarretinal cystic lesions observed in the OCT-SD, exhibited hyper-autofluorescence, which was compatible to the protein deposit of the cysts (colloids and crystalloids). These findings guided us to the diagnosis of Pseudoxanthoma elasticum, which we did not suspect because of the lack of cutaneous or cardiovascular manifestations.


When we have a case with an unknown etiology, it is important to establish a differential diagnosis. Sometimes there are systemic illnesses like Pseudoxanthoma elasticum, that only present with ocular pathology. In this case, OCT-SD and FAF were remarkably helpful diagnostic tools. The OCT-SD allowed us to observe previously described pathognomonic lesions and the FAF helped us study the behaviour of these lesions. All of this helped us decide a course of action and be aware of early preventive treatment in case of being necessary.

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