Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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Stargardt Disease – A Disease Entity? Clinical and Molecular Genetic Perspectives

Kellner U.1, Weber B. H. F.2
1Augenklinik, Univ.-Klinikum Benjamin Franklin, Freie Universität Berlin, 2Institut für Humangenetik, Abt. für Humangenetik, Biozentrum, Würzburg

Purpose: Stargardt disease was first described in 1909 by Karl Stargardt. Since then multiple clinical classifications have been developed. The association with mutations in the ABCA4 gene was noted by Allikmets et al in 1997.
Method: Analysis of the recent literature and own findings in patients with Stargardt disease.
Results: Stargardt disease is the most frequent inherited macular dystrophy. Onset is usual within the first two decades of life, however, it may occur later in the 3rd to 5th decade of life. The most frequent recessive form is associated with mutations in the ABCA4 gene. Mutations in the same gene are also associated with cone dystrophies, retinitis pigmentosa and potentially with age-related macular degeneration. The ABCA4 gene encodes a transport protein in the vitamin A cycle. The severity of disease expression most likely depends on the degree of residual activity of the mutated transporter. Histopathologic findings and knock out mouse models provided novel insight into pathophysiologic processes and potential therapeutic strategies.
Conclusions: Due to the high variability of clinical expression in ABCA4-associated disorders the term Stargardt disease may not longer be appropriate for diagnostic purposes. The combi

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