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- Danielius Serapinas, Viltautė Obrikytė, and Raimundas Sakalauskas.
- Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences, Eivenių 2, 50161 Kaunas, Lithuania. dserapinas@gmail.com.
- Medicina (Kaunas). 2013 Jan 1; 49 (8): 386391386-91.
AbstractStargardt 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.
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