These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
    Author: Warwick AN, Shawkat F, Lotery AJ.
    Journal: Ophthalmic Genet; 2017; 38(2):178-182. PubMed ID: 27176872.
    Abstract:
    BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. Cystoid macular oedema (CMO) is a rare feature of CORD and has not been described in CORD7. We report a patient who was heterozygous for the RIM1 mutation with bilateral CMO and who manifested a retinitis pigmentosa phenotype. MATERIALS AND METHODS: The patient's medical notes were retrospectively reviewed over an 18-month period. Genetic testing was performed by next generation sequencing for a panel of 176 genes associated with retinal dystrophy. RESULTS: A 34-year-old man presented with a 5-year history of bilateral floaters and blurred vision. Visual acuity was 20/23 and 20/33 in the right and left eyes, respectively. Optical coherence tomography scans revealed bilateral CMO. Goldmann visual field tests detected mid-peripheral ring scotomas. Electrodiagnostic testing was overall consistent with a primary photoreceptor abnormality involving both rods and cones. Subsequent genetic testing identified heterozygosity for the RIM1 c.2459G>A (Arg820His) mutation. Various treatments for CMO were trialled unsuccessfully. However, at his latest clinic appointment the CMO had partially improved following topical brinzolamide therapy. Most recent visual acuity was 20/25 in the right eye and 20/24 in the left eye. CONCLUSIONS: 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.
    [Abstract] [Full Text] [Related] [New Search]