Angioid streaks beyond pseudoxanthoma elasticum

Abstract

Abstract Purpose Angioid streaks (AS) are funduscopic findings, caused by crack‐like dehiscences in elastic portions of Bruch membrane. AS are a manifestation of underlying systemic conditions, such as pseudoxanthoma elasticum (PXE), Paget disease, sickle cell anemia, other blood dyscrasias and, rarely, Ehlers‐Danlos syndrome. By far the commonest association is PXE. Differences and similarities of AS in β‐thalassemia minor, PXE‐like syndrome and Savanna haemoglobinopathy with AS seen in PXE are discussed. The description of AS in Savanna haemoglobinopathy is a first. Methods Angioid streaks were detected in one patient with β‐thalassemia minor, one with PXE‐like syndrome and one with Savanna haemoglobinopathy. They underwent a full ophthalmic work‐up. Molecular analysis of the ABCC6 gene to exclude PXE was performed by dHPLC (denaturing high‐performance liquid chromatography) and direct sequencing. Results A 34 year old lady with β‐thalassemia minor had a fundus appearance which was an exact phenocopy of PXE retinopathy, including angioid streaks, peau d’orange and comets. In contrast, a 51 year old lady with PXE‐like syndrome and a 55 year old man with Savanna haemoglobinopathy had a limited number of short, thick, feathered, white streaks around the optic disc. Conclusion AS differ in aspect depending on the underlying condition. The exact etiology of AS in these systemic conditions has not yet been elucidated. However, it is tempting to suggest that distinct pathogenetic mechanisms underlying very different blood dyscrasias as well as PXE, meet at a final common pathway, leading to breaks in Bruch membrane.