Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7
This is the first reported case of bilateral CMO in association with the RIM1 mutation. Overall, our findings were more consistent with a phenotype of retinitis pigmentosa. This could imply that the RIM1 mutation causes diverse retinal dystrophies, or that the previously described CORD7 phenotype resulted from a different variant on the same haplotype
1-5
Warwick, Alasdair N.
30b9af00-d6a6-4dca-b8f3-2c8c2d04b446
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Warwick, Alasdair N.
30b9af00-d6a6-4dca-b8f3-2c8c2d04b446
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Lotery, Andrew J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Warwick, Alasdair N., Shawkat, Fatima and Lotery, Andrew J.
(2016)
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
Ophthalmic Genetics, .
(doi:10.1080/13816810.2016.1183215).
(PMID:27176872)
Abstract
This is the first reported case of bilateral CMO in association with the RIM1 mutation. Overall, our findings were more consistent with a phenotype of retinitis pigmentosa. This could imply that the RIM1 mutation causes diverse retinal dystrophies, or that the previously described CORD7 phenotype resulted from a different variant on the same haplotype
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Revised manuscript 3.pdf
- Accepted Manuscript
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300316 RIM1 - no comments.doc
- Accepted Manuscript
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Accepted/In Press date: 16 April 2016
e-pub ahead of print date: 13 May 2016
Organisations:
Clinical & Experimental Sciences
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Local EPrints ID: 394440
URI: http://eprints.soton.ac.uk/id/eprint/394440
ISSN: 1381-6810
PURE UUID: 8bdf646c-bfb3-4eea-a0cf-5c6a6b73a42c
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Date deposited: 17 Jun 2016 07:53
Last modified: 15 Mar 2024 05:34
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Author:
Alasdair N. Warwick
Author:
Fatima Shawkat
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