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Case Reports in Ophthalmological Medicine
Volume 2015, Article ID 452068, 3 pages
Case Report

Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa

1Biomedical Research and Study Centre, Riga LV-1067, Latvia
2Pauls Stradins Clinical University Hospital, Riga LV-1002, Latvia

Received 7 April 2015; Revised 8 June 2015; Accepted 17 June 2015

Academic Editor: Toshihide Kurihara

Copyright © 2015 Māreta Audere et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.