CASE REPORT
A 55-year-old female presented with a complaint of central visual loss. On dilated fundus examination, orange hyperpigmentation, angioid streaks, and CNV were noted.
On physical examination, skin lesions were found in her neck region, so she was referred to a dermatologist for an incisional biopsy to confirm the diagnosis of Pseudoxanthoma Elasticum.
After getting the combined opinions of a dermatologist and an ophthalmologist, the diagnosis of Pseudoxanthoma Elasticum was confirmed.
Pseudoxanthoma Elasticum DISEASE entity
Pseudoxanthoma Elasticum is also known as Gronblad-Strandberg syndrome. It is a genetic disorder in which mutations in the ABCC6 gene occur. This gene is responsible for maintaining the elasticity of different body structures.
Still, due to hereditary mutations of the gene, calcium deposits are accumulated in elastic tissues of the body such as the skin, cardiovascular system, gastrointestinal system, and eyes thus leading to pseudoxanthoma elasticum. But all of these don’t need to be affected at a time.
It might be possible that skin lesions are present but visual and cardiac systems have not shown any abnormality yet.
When it affects the skin, it causes cobblestone-like rashes to be visible on the skin usually on the side of the neck
In the Cardiovascular system, it causes the Narrowing of blood vessels due to mineralization thus causing a decrease in blood flow. When blood flow is disrupted, the patient may feel cramps in his legs while walking.
In the gastrointestinal system, it causes bleeding in the stomach or intestine
In the eyes, it affects the outer layer of the retina called Bruch’s membrane which is elastic.
Due to gene mutations, the elasticity of Bruch’s membrane is lost, leading to cracks in Bruch’s membrane. These cracks show a resemblance with blood vessels but are named angioid streaks. These cracks allow the growth of abnormal blood vessels( neovascularization) which leak and bleed thus causing central loss of vision.
On examination, the retina shows:
- peau d’ orange or mottled hyperpigmentation.
- angioid streaks.
- CNV.
Pseudoxanthoma Elasticum MANAGEMENT
In some cases of retinal hemorrhages, injectable medications and laser treatment are helpful but lost vision cannot be restored with laser treatments.
In such cases, the patient is referred to a low vision clinic to provide him with low vision aids to compensate for his vision loss and improve his quality of life with remaining vision.
Would you have interest in taking retina images by smartphone?
Fundus photography is superior to fundus analysis as it enables intraocular pathologies to be photo-captured and encrypted information to be shared with colleagues and patients.
Recent technologies allow smartphone-based attachments and integrated lens adaptors to transform the smartphone into a portable fundus camera and Retinal imaging by smartphone.
RETINAL IMAGING BY YOUR SMARTPHONE
REFERENCES
- Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2011;94:169–80.
- Gliem M, Müller PL, Birtel J, Hendig D, Holz FG, Charbel Issa P. Frequency, phenotypic characteristics and progression of atrophy associated with a diseased bruch’s membrane in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2016;57:3323–30.
- Orssaud C, Roche O, Dufier JL, Germain DP. Visual impairment in pseudoxanthoma elasticum: A survey of 40 patients. Ophthalmic Genet. 2015;36:327–32.
- Bennett JC, Plum F. eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1123-24.
- Yamada T, et al, eds. Textbook of Gastroenterology. 2nd ed. Philadelphia, PA: J.B. Lippincott Company; 1995:959-60.
- Beighton P, ed. McKusick’s Heritable Disorders of Connective Tissue. 5th ed. St. Louis, MO: Mosby-Year Book, Inc; 1993:335-65.
