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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/452068 |
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| _version_ | 1832559845780226048 |
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| author | Māreta Audere Katrīna Rutka Svetlana Šepetiene Baiba Lāce |
| author_facet | Māreta Audere Katrīna Rutka Svetlana Šepetiene Baiba Lāce |
| author_sort | Māreta Audere |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-97133fcf41bd4a45835c9f3a6948ccba |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-97133fcf41bd4a45835c9f3a6948ccba2025-02-03T01:29:05ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302015-01-01201510.1155/2015/452068452068Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis PigmentosaMāreta Audere0Katrīna Rutka1Svetlana Šepetiene2Baiba Lāce3Biomedical Research and Study Centre, Riga LV-1067, LatviaBiomedical Research and Study Centre, Riga LV-1067, LatviaPauls Stradins Clinical University Hospital, Riga LV-1002, LatviaBiomedical Research and Study Centre, Riga LV-1067, LatviaRetinitis 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.http://dx.doi.org/10.1155/2015/452068 |
| spellingShingle | Māreta Audere Katrīna Rutka Svetlana Šepetiene Baiba Lāce Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa Case Reports in Ophthalmological Medicine |
| 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 |
| url | http://dx.doi.org/10.1155/2015/452068 |
| work_keys_str_mv | AT maretaaudere presentationofcomplexhomozygousalleleinabca4geneinapatientwithretinitispigmentosa AT katrinarutka presentationofcomplexhomozygousalleleinabca4geneinapatientwithretinitispigmentosa AT svetlanasepetiene presentationofcomplexhomozygousalleleinabca4geneinapatientwithretinitispigmentosa AT baibalace presentationofcomplexhomozygousalleleinabca4geneinapatientwithretinitispigmentosa |