Stargardt macular dystrophy and therapeutic approaches

Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691). Major advances in understanding both the clinical and...

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Veröffentlicht in:	British journal of ophthalmology 2023-11, Vol.108 (4), p.495-505
Hauptverfasser:	Fujinami, Kaoru, Waheed, Nadia, Laich, Yannik, Yang, Paul, Fujinami-Yokokawa, Yu, Higgins, Joseph J, Lu, Jonathan T, Curtiss, Darin, Clary, Cathryn, Michaelides, Michel
Format:	Artikel
Sprache:	eng
Schlagworte:	ATP-Binding Cassette Transporters - genetics Electrophysiology Eye diseases Genetic disorders Genetics Genotype Genotype & phenotype Humans Imaging Macular Degeneration - diagnosis Macular Degeneration - genetics Macular Degeneration - therapy Medical imaging Medical research Mutation Pathogenesis Pathology Phenotype Photoreceptors Precision medicine Proteins Retina Review Stargardt Disease Treatment other
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