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Coquille d'oeuf in young patients affected with Pseudoxantoma elasticum
Vittoria Murro1, Dario Pasquale Mucciolo1, Dario Giorgio1
1a Department of Neuroscience, Psychology , Drug Research and Child Health, University of Florence , Florence , Italy.
Insights
Early fundus changes like peau d'orange and angioid streaks are common in young Pseudoxantoma Elasticum (PXE) patients. These findings, including comet lesions and optic disc drusen, appear early, aiding in timely diagnosis and management of PXE retinopathy.
Area of Science:
- Ophthalmology
- Medical Genetics
- Retinal Diseases
Background:
- Pseudoxantoma Elasticum (PXE) is a rare genetic disorder affecting connective tissue.
- Ocular manifestations in PXE can lead to significant visual impairment if not detected early.
Purpose of the Study:
- To characterize the early fundus phenotype in young patients diagnosed with Pseudoxantoma Elasticum (PXE).
- To identify specific retinal changes indicative of PXE in a pediatric cohort.
Main Methods:
- Retrospective case series of five young PXE patients.
- Utilized ultra-widefield imaging (color, red-free, choroidal, FAF) and OCT.
- Confirmed diagnosis via skin biopsy histopathology and genetic testing.
Main Results:
- All five patients (mean age 16) had 20/20 visual acuity.
- Peau d'orange/coquille d'oeuf lesions observed in all patients, visible with ultra-widefield imaging.
- Angioid streaks (4/5), optic disc drusen (1/5), and comet lesions (5/5) were noted.
Conclusions:
- PXE-related retinopathy findings manifest early in young patients.
- Early detection of peau d'orange/coquille d'oeuf in the mid-periphery suggests early Bruch's membrane involvement.
- Comprehensive fundus evaluation is crucial for early diagnosis and management of PXE ocular complications.
Abstract:
Purpose: To evaluate the fundus phenotype of young patients affected with Pseudoxantoma Elasticum (PXE). Materials and Methods: Retrospective case series of five young PXE patients. Clinical data, ultra-widefield imaging (color, red-free (RF), choroidal (Ch) and fundus autofluorescence (FAF)) and OCT examination were collected. Diagnosis was confirmed by the characteristic histopathological abnormalities in skin biopsies and genetic testing results. Results: Five patients, 2 males and 3 females (mean age 16 years, range 12-20 years) were included in our study. The visual acuity was 20/20 in all subjects. Fundus evaluation revealed peau d'orange in all patients: multiple, yellowish/white round lesions, scattered from the posterior pole to the mid-peripheral retina of each eye. Ultra-wide field imaging allows us to capture and describe the entire area of coquille d'oeuf/peau d'orange in a single picture, facilitating their identification and discrimination. Angiod streaks were visible in both eyes of four patients. In one patient optic disc drusen were detected in both eyes. All patients presented comet lesions. Conclusions: PXE-related retinopathy findings: peau d'orange/coquille d'oeuf, angioid streaks, comet lesions and drusen of the optic disc were present early in PXE patients. The early detection of coquille d'oeuf/peau d'orange revealed a preferable area into midperiphery where Bruch's membrane will be more likely to be affected.