Angioid Streaks - Asymptomatic Case

This 41 year old woman without visual complaints was found to have angioid streaks on a routine exam for glasses. The streaks are indicated by the white arrows. A suggestion on peau d'orange is indicated at the yellow arrow. There is phenotypic variation in the disease, and some cases have peau d'orange displayed prominently, whereas others not at all. On skin examination, no plucked turkey skin changes were found. Blood was drawn to look for mutation in the gene encoding the transmembrane transporter protein ABC-C6. This genetic mutation is autosomal recessive and causes eye changes as shown, premature atherosclerosis in the cardiovascular system, and sometimes gastrointestinal bleeding. Trauma to the eye should be avoided, and routine testing with the Amsler grid is a good idea to detect development of choroidal neovascularization should it occur.