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Experimental Ophthalmology

Best’s vitelliforme macular dystrophy

Best’s macular dystrophy is an autosomal inherited form of macular dystrophy with juvenile onset. The monogenetic disease leads to an early accumulation of lipofuscin in the macula, loss of vision and an egg-yolk-like lesion in the macula. The disease shares similarities with age-related macular degeneration.   Therefore, understanding of the mechanism leading to Best’s disease could help to better understand mechanisms leading to age-related macular degeneration. In important symptom for the diagnosis of the disease is the reduction of the light-peak in the patient’s electro-oculogram.

Best’s disease is caused by mutations in the VMD2 gene (Marquardt, Stohr et al. 1998; Petrukhin, Koisti et al. 1998) . The name of the gene product is bestrophin-1. So far, mostly in studies using heterologeous expression systems, the bestrophins were described to function as Ca2+-dependent Cl- channels (Hartzell, Qu et al. 2005) . A mutation-dependent loss of Cl- channel function could elegantly explain the changes in the patient’s electro-oculogram (Sun, Tsunenari et al. 2002) . However, other aspects of the disease such as lipofuscin accumulation or the degeneration of the macula remain not understood.

We believe that bestrophin has a combined function as Cl- channel and as a regulator of intracellular Ca2+ rises which are generated as second-messenger in intracellular regulatory signal pathways. Thus, we investigate the functions of bestrophin which are connected to intracellular Ca2+ homeostasis such as Ca2+ channel regulation (Rosenthal, Bakall et al. 2006) or the impact of bestrophin on agonist induced rises in intracellular free Ca2+.

 

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