title: Stargardt disease caused by a rare combination of double homozygous mutations.
abstract: 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.
authors: Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences, Eivenių 2, 50161 Kaunas, Lithuania. dserapinas@gmail.com.
authors: Danielius
authors: D
authors: Serapinas
authors: Viltautė
authors: V
authors: Obrikytė
authors: Raimundas
authors: R
authors: Sakalauskas
mesh_terms: D064286:ATP Binding Cassette Transporter 1 / Q000235:genetics*; D002648:Child; D005260:Female; D005654:Fundus Oculi; D005817:Genetic Counseling; D006720:Homozygote; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D000080362:Stargardt Disease; D014792:Visual Acuity / Q000235:genetics
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1