publication . Article . Other literature type . 2017

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

Tanna Preena; Strauss Rupert W; Fujinami Kaoru; Michaelides Michel;
Open Access
  • Published: 01 Jan 2017 Journal: British Journal of Ophthalmology, volume 101, pages 25-30 (issn: 0007-1161, eissn: 1468-2079, Copyright policy)
  • Publisher: BMJ
  • Country: United Kingdom
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 . Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention...
free text keywords: ABCA4, biology.protein, biology, Macular degeneration, medicine.disease, medicine, Clinical trial, Dystrophy, Molecular genetics, medicine.medical_specialty, Macular dystrophy, Pathology, business.industry, business, Disease, Stargardt disease, Dystrophy, Imaging, Retina, 1506, Review, Imaging, Retina
Funded by
FWF| Development of Efficacy Measures in Stargardt Mac. Dystrophy
  • Funder: Austrian Science Fund (FWF) (FWF)
  • Project Code: J 3383
  • Funding stream: Schrödinger-Programm
WT| High Resolution Retinal Imaging.
  • Funder: Wellcome Trust (WT)
  • Project Code: 099173
  • Funding stream: Neuroscience and Mental Health
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publication . Article . Other literature type . 2017

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

Tanna Preena; Strauss Rupert W; Fujinami Kaoru; Michaelides Michel;