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Page 1
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M. Aboshiha J, et al. Br J Ophthalmol. 2016 Jan;100(1):115-21. doi: 10.1136/bjophthalmol-2014-306505. Epub 2015 Mar 13. Br J Ophthalmol. 2016. PMID: 25770143 Free PMC article. Review.
This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are character …
This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bra …
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. Michaelides M, et al. Ophthalmology. 2010 Jan;117(1):120-127.e1. doi: 10.1016/j.ophtha.2009.06.011. Epub 2009 Oct 8. Ophthalmology. 2010. PMID: 19818506
PURPOSE: To examine the phenotypes of 8 patients with evidence of cone dysfunction and normal color vision (characteristic features of both oligocone trichromacy and bradyopsia), and subsequently to screen RGS9 and R9AP for disease-causing mutations. ...Patients with eithe …
PURPOSE: To examine the phenotypes of 8 patients with evidence of cone dysfunction and normal color vision (characteristic features of both …
Six patients with bradyopsia (slow vision): clinical features and course of the disease.
Hartong DT, Pott JW, Kooijman AC. Hartong DT, et al. Ophthalmology. 2007 Dec;114(12):2323-31. doi: 10.1016/j.ophtha.2007.04.057. Epub 2007 Sep 12. Ophthalmology. 2007. PMID: 17826834
OBJECTIVE: Recently, it was discovered that subjects who showed a prolonged response suppression on their electroretinogram (ERG) and had symptoms of photophobia, problems adjusting to bright light, and difficulties seeing moving objects shared a mutation in the RGS9 (regulator o …
OBJECTIVE: Recently, it was discovered that subjects who showed a prolonged response suppression on their electroretinogram (ERG) and had sy …
Unique retinal signaling defect in GNB5-related disease.
Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Shao Z, et al. Doc Ophthalmol. 2020 Jun;140(3):273-277. doi: 10.1007/s10633-019-09735-1. Epub 2019 Nov 12. Doc Ophthalmol. 2020. PMID: 31720979
CONCLUSION: This report identifies for the first time a unique retinopathy associated with biallelic mutations in GNB5. The observed phenotype is consistent with a dual retinal signaling defect reminiscent of features of bradyopsia and rod ON-bipolar dysfunction....
CONCLUSION: This report identifies for the first time a unique retinopathy associated with biallelic mutations in GNB5. The observed …
Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia).
Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides M. Strauss RW, et al. Am J Ophthalmol. 2015 Dec;160(6):1269-1275.e1. doi: 10.1016/j.ajo.2015.08.032. Epub 2015 Sep 3. Am J Ophthalmol. 2015. PMID: 26343007 Free PMC article.
PURPOSE: To characterize photoreceptor structure and mosaic integrity in subjects with RGS9- and R9AP-associated retinal dysfunction (bradyopsia) and compare to previous observations in other cone dysfunction disorders such as oligocone trichromacy. DESIGN: Obser …
PURPOSE: To characterize photoreceptor structure and mosaic integrity in subjects with RGS9- and R9AP-associated retinal dysfunction (bra …
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N. Oishi M, et al. Mol Vis. 2016 Feb 20;22:150-60. eCollection 2016. Mol Vis. 2016. PMID: 26957898 Free PMC article.
Subsequently, candidate variants were screened using systematic data analyses, and their potential pathogenicity was assessed using distinct filtering approaches, which included the frequency of the variants in normal populations, in silico prediction tools, and cosegregat …
Subsequently, candidate variants were screened using systematic data analyses, and their potential pathogenicity was assessed using distinct …