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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
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
1381-6810
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, 1-5. (doi:10.1080/13816810.2016.1183215). (PMID:27176872)

Record type: Article

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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More information

Accepted/In Press date: 16 April 2016
e-pub ahead of print date: 13 May 2016
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 394440
URI: https://eprints.soton.ac.uk/id/eprint/394440
ISSN: 1381-6810
PURE UUID: 8bdf646c-bfb3-4eea-a0cf-5c6a6b73a42c
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 17 Jun 2016 07:53
Last modified: 20 Jul 2019 05:56

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