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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.
Warwick AN, Shawkat F, Lotery AJ. Warwick AN, et al. Ophthalmic Genet. 2017 Mar-Apr;38(2):178-182. doi: 10.1080/13816810.2016.1183215. Epub 2016 May 13. Ophthalmic Genet. 2017. PMID: 27176872
BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. ...
BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G …
Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.
Chiou YR, Cheng HC, Wang AG. Chiou YR, et al. Ophthalmic Genet. 2022 Jun;43(3):409-412. doi: 10.1080/13816810.2022.2025604. Epub 2022 Jan 11. Ophthalmic Genet. 2022. PMID: 35014575
BACKGROUND: Autosomal-dominant cone-rod dystrophy 7 (CORD7) has been documented in association with RIM1 mutation (c.2459 G>A). ...
BACKGROUND: Autosomal-dominant cone-rod dystrophy 7 (CORD7) has been documented in association with RIM1 mutatio …