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Volume 49
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Medicina is published by MDPI from Volume 54 Issue 1 (2018). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences (LUHS), and Vilnius University.
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Article

Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations

by
Danielius Serapinas
*,
Viltautė Obrikytė
and
Raimundas Sakalauskas
Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences, Lithuania
*
Author to whom correspondence should be addressed.
Medicina 2013, 49(8), 60; https://doi.org/10.3390/medicina49080060
Submission received: 9 June 2013 / Accepted: 30 August 2013 / Published: 4 September 2013
Versions Notes

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.
Keywords: ABCA4; mutation; Stargardt disease ABCA4; mutation; Stargardt disease

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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. https://doi.org/10.3390/medicina49080060

AMA Style

Serapinas D, Obrikytė V, Sakalauskas R. Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations. Medicina. 2013; 49(8):60. https://doi.org/10.3390/medicina49080060

Chicago/Turabian Style

Serapinas, Danielius, Viltautė Obrikytė, and Raimundas Sakalauskas. 2013. "Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations" Medicina 49, no. 8: 60. https://doi.org/10.3390/medicina49080060

APA Style

Serapinas, D., Obrikytė, V., & Sakalauskas, R. (2013). Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations. Medicina, 49(8), 60. https://doi.org/10.3390/medicina49080060

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