Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7-Reference-Cited by-同舟云学术

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7

Published:2016-05-13 Issue:2 Volume:38 Page:178-182
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Warwick Alasdair N.¹²,Shawkat Fatima²,Lotery Andrew J.¹²

Affiliation:

1. Clinical Neurosciences Research Group, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK

2. Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2016.1183215

Reference15 articles.

1. Cone rod dystrophies

2. Retinitis pigmentosa

3. Localization of a Gene (CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q

4. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)☆

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1. No strong evidence to date for an association between RIMS1 and retinal dystrophy;Documenta Ophthalmologica;2022-11-02

2. Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1;Investigative Opthalmology & Visual Science;2022-08-10

3. Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes;BMJ Open Ophthalmology;2022-08

4. Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy;Ophthalmic Genetics;2022-01-11

5. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement;The American Journal of Human Genetics;2020-06