Medical Care
Evaluation for patients with pseudoxanthoma elasticum usually can be conducted on an outpatient basis. The most visually devastating complication of angioid streaks in the eye is neovascular membrane formation in the macula at the level of the pigment epithelium-Bruch membrane. This is similar to the neovascularization seen in age-related macular degeneration (ARMD).
If choroidal neovascularization (CNV) is found on clinical examination, fluorescein angiography and optical coherence tomography (OCT) may be helpful in delineating and documenting the location and size of a neovascular membrane. [6] Therapy with intravitreal antivascular endothelial growth factor (anti-VEGF) agents should be considered. [7] Neovascular membranes away from the fovea have also been treated via laser. Photodynamic therapy has had limited success in the treatment of CNV. Although repeated intravitreal injection of the fusion protein aflibercept or the monoclonal antibody ranibizumab or the off-label use of bevacizumab seems to maintain visual acuity, CNV frequently recurs or new areas of CNV may develop. [8]
In a small case series of patients with pseudoxanthoma elasticum, 20% of eyes had geographic atrophy independent of choroidal neovascularization. Linear pigmented pattern dystrophy appeared to predate geographic atrophy. [9] Recognition of geographic atrophy is important as therapies to slow or reverse geographic atrophy, including ciliary neurotrophic factor delivered by an encapsulated cell, stem cell therapy, fenretinide, doxycycline, sirolimus, and fluocinolone acetonide intravitreal implants, are under investigation.
If keratoconus is found in association with pseudoxanthoma elasticum, management with contact lenses, riboflavin-assisted cross-linking, or penetrating keratoplasty can be used, similarly to patients without pseudoxanthoma elasticum.
Visual deficits may have variable effects on vision-related quality of life. The extent of each visual deficit varies between patients, Direct conclusions on the vision-related quality of life based on structural and functional measures may be limited because perceived disease burden may depend on individual coping strategies, age, personal circumstances, and occupation.
Consultations
Consultations include the following:
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Neurologist
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Pediatrician
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Internist
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Cardiologist
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Gastroenterologist
Diet
Dietary restriction of calcium and phosphorus to minimum daily requirement levels has shown arrest in progression of the disease.
Activity
Eye protection for contact sports or physical activity is indicated.
Patients with pseudoxanthoma elasticum who are exposed to ocular trauma are predisposed to the development of angioid streaks and subsequent visual loss.
