DR. DHRUV GOYAL

DR. VIVEK WANI, DR. MITALI MANGOLI, DR. ARYA WAKANKAR

Abstract

Pseudoxanthoma elasticum is a rare genetic disease characterized by calcification and fragmentation, of elastic fibers affecting the skin, retina, and the cardiovascular system. It is primarily a disease affecting the skin, causing yellowish papular lesions and may involve the retina leading to visual loss.

A 45-year-old female, came to the Ophthalmology OPD with complaints of diminution of vision in the Right eye which was sudden in onset, painless and non-progressive in nature. Visual acuity in the Right eye was 6/36 and Left eye was 6/9. Anterior segment appeared normal. Fundus examination in both the eyes showed Peau d’ orange appearance and angioid streaks along with subretinal scars and choroidal neovascular membrane. OCT showed Hyper-reflective areas at subretinal level and chorio-capillary atrophy. Dermatological evaluation revealed presence of yellowish macules on the skin. She was treated with 3 intravitreal injections of Bevacizumab. Her visual acuity improved to 6/18