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Medicina is published by MDPI from Volume 54 Issue 1 (2018). Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence. Articles are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Open AccessArticle

Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations

Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences, Lithuania
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Medicina 2013, 49(8), 60; https://doi.org/10.3390/medicina49080060
Received: 9 June 2013 / Accepted: 30 August 2013 / Published: 4 September 2013
Stargardt disease is a juvenile macular degeneration most often inherited in an autosomal recessive pattern, characterized by decreased vision in the first 2 decades of life. This report presents a clinical case of Stargardt disease: a 10-year-old female patient complained of blurry vision, and in a 4-year period, her visual acuity was reduced from OD=0.3 and OS=0.3 to OD=0.08 and OS=0.1, respectively. A genetic analysis revealed a rare combination of 2 homozygous recessive mutations in the ABCA4 gene, which caused Stargardt disease. The presence of different genetic mechanisms leading to a severe disease phenotype can challenge molecular geneticists, ophthalmologists, and genetic counselors.
Keywords: ABCA4; mutation; Stargardt disease ABCA4; mutation; Stargardt disease
MDPI and ACS Style

Serapinas, D.; Obrikytė, V.; Sakalauskas, R. Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations. Medicina 2013, 49, 60.

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