Abstract
Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch’s membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium. Angioid streaks have been described to be associated with pseudoxanthoma elasticum, paget’s disease, sickle-cell anaemia, acromegaly, Ehlers–Danlos syndrome, and diabetes mellitus, but also appear in patients without any systemic diseases. Patients with angioid streaks are generally asymptomatic, unless the lesions extend towards the foveola or develop complications such as traumatic bruch’s membrane rupture or macular choroidal neovascularization.
This is a preview of subscription content, log in via an institution to check access.
References
Heiberg A (2001) Aagenaes syndrome–lymphedema and intrahepatic cholestasis. Tidsskr Nor Laegeforen 121(14):1718–1719
Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB et al (2000) Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6 cM interval on chromosome 15q. Am J Hum Genet 67(4):994–999
Georgalas I, Papaconstantinou D, Koutsandrea C, Kalantzis G, Karagiannis D, Georgopoulos G et al (2009) Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag 5(1):81–89
Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F et al (2003) Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome. J Pediatr 142(4):441–447
Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS et al (2013) CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One 8(9):e75770
Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL et al (2000) A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high resolution mapping and genomic structure. J Mol Med 78(1):36–46
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Shoumnalieva-Ivanova, V., Tanev, I., Zdravkov, Y. et al. Angioid streaks in aagenaes syndrome. Int Ophthalmol 37, 1065–1068 (2017). https://doi.org/10.1007/s10792-016-0344-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10792-016-0344-y