Abstract
Purpose: :
Angioid streaks (AS) are visible irregular breaks in Bruch's membrane (BM), extending from the optic nerve head radial to the retinal periphery. The overlaying pigment epithelium gets atrophic. AS are associated with e.g. Pseudoxanthoma elasticum or sickle cell syndrome. Congenital Dyserythropoietic Anaemia (CDA) is an inherited, rare disorder of erythropoiesis with abnormal erythroblasts. There are 3 main groups. Few case reports of AS in CDA I and III exist, but no report of AS in CDA II, the most frequent of the CDAs.
Methods: :
8 eyes of 4 patients were examined (2 CDA I, 2 CDA II).The CDA I (female, male) were first seen 2009, the follow up 9 respectively 11 month later. The CDA II (2 female) were first seen 03/2010.The average age was 44.3 ±6.7 years. Vision, Amsler grid, OCT, fundus pictures, fluorescent angiography were performed. Blood was drawn for neutrophil elastase (ELA2).
Results: :
All patients showed AS bilaterally, best corrected log MAR-vision was 0 (Snellen chart 1.0-1.25). Metamorphopsia did not exist; OCT did not show sub-/retinal fluid. The fundus pictures of the patients with follow up did not show an increase of the AS nor signs for CNV. To mention is an eye area of similar appearance with the impression of bigger eye balls and a mild to sever ptosis. ELA2 was in normal limits.
Conclusions: :
This is the first report of AS in CDA II and the first follow up in CDA I. AS could be observed in every eye, so far without progression and CNV. ELA2 in normal limits does not emphasize the hypothesis of elastic tissue injury due to oxidative reactions and inflammation hence breaks in the elastic lamina of the BM as postulated in e.g. sickle cell syndrome and thalassemia.
Keywords: Bruch's membrane • clinical (human) or epidemiologic studies: prevalence/incidence