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

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...

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Autores principales: Audere, Māreta, Rutka, Katrīna, Šepetiene, Svetlana, Lāce, Baiba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503555/
https://www.ncbi.nlm.nih.gov/pubmed/26229699
http://dx.doi.org/10.1155/2015/452068
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author Audere, Māreta
Rutka, Katrīna
Šepetiene, Svetlana
Lāce, Baiba
author_facet Audere, Māreta
Rutka, Katrīna
Šepetiene, Svetlana
Lāce, Baiba
author_sort Audere, Māreta
collection PubMed
description 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.
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spelling pubmed-45035552015-07-30 Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa Audere, Māreta Rutka, Katrīna Šepetiene, Svetlana Lāce, Baiba Case Rep Ophthalmol Med Case Report 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. Hindawi Publishing Corporation 2015 2015-07-02 /pmc/articles/PMC4503555/ /pubmed/26229699 http://dx.doi.org/10.1155/2015/452068 Text en Copyright © 2015 Māreta Audere et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Audere, Māreta
Rutka, Katrīna
Šepetiene, Svetlana
Lāce, Baiba
Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
title Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
title_full Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
title_fullStr Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
title_full_unstemmed Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
title_short Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
title_sort presentation of complex homozygous allele in abca4 gene in a patient with retinitis pigmentosa
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503555/
https://www.ncbi.nlm.nih.gov/pubmed/26229699
http://dx.doi.org/10.1155/2015/452068
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