Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Pseudoxanthoma Elasticum (PXE)

Skin Complete skin exam w/biopsy (if not done previously) by dermatologistTo establish a baseline
Eye Complete exam by retinal specialist incl best corrected visual acuity, Amsler grid, OCT, 1 & retinal exam for neovascularization & macular atrophyEarly recognition of choroidal neovascularization assoc w/angioid streaks allows prompt treatment w/anti-angiogenesis drugs & appropriate surveillance.
Reduced vision Consultation w/agencies for the visually impaired 1Use of low vision aids 2
Gastrointestinal (bleeding, angina) Obtain past medical history & medical records for findings consistent w/these potential complicationsReferral to gastroenterologist
Vascular Claudication of leg
&/or arm muscles
Obtain past medical history & medical records for findings consistent w/these potential vascular complicationsReferral to vascular clinic
Stroke Referral to neurologist/stroke clinic
Referral to nephrologist
Cardiovascular assessment Referral to cardiologist for baseline examCardiovascular issues (if present) may be exacerbated by PXE.
Other Consultation w/clinical geneticist &/or genetic counselor

OCT = optical coherence tomography


In the US, publicly funded agencies at the state level provide services for the blind or those with progressive eye disorders; services include vocational training, mobility training, and skills for independent living.


Low vision aids such as magnifiers and closed-circuit television may provide useful reading vision for individuals with reduced central acuity.

From: Pseudoxanthoma Elasticum

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