Rescue of M-cone Function in Aged Opn1mw−/− Mice, a Model for Late-Stage Blue Cone Monochromacy
نویسندگان
چکیده
منابع مشابه
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy
Purpose Blue cone monochromacy (BCM) is an X-linked congenital vision disorder characterized by complete loss or severely reduced L- and M-cone function. Patients with BCM display poor visual acuity, severely impaired color discrimination, myopia, nystagmus, and minimally detectable cone-mediated electroretinogram. Recent studies of patients with BCM with adaptive optics scanning laser ophthalm...
متن کاملDe novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinatio...
متن کاملVisual Function and Cortical Organization in Carriers of Blue Cone Monochromacy
Carriers of blue cone monochromacy have fewer cone photoreceptors than normal. Here we examine how this disruption at the level of the retina affects visual function and cortical organization in these individuals. Visual resolution and contrast sensitivity was measured at the preferred retinal locus of fixation and visual resolution was tested at two eccentric locations (2.5° and 8°) with spect...
متن کاملBlue cone monochromacy: Causative mutations and associated phenotypes
PURPOSE To perform a phenotypic assessment of members of three British families with blue cone monochromatism (BCM), and to determine the underlying molecular genetic basis of disease. METHODS Affected members of three British families with BCM were examined clinically and underwent detailed electrophysiological and psychophysical testing. Blood samples were taken for DNA extraction. Molecula...
متن کاملBlue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials
BACKGROUND Blue Cone Monochromacy (BCM) is an X-linked retinopathy caused by mutations in the OPN1LW / OPN1MW gene cluster, encoding long (L)- and middle (M)-wavelength sensitive cone opsins. Recent evidence shows sufficient structural integrity of cone photoreceptors in BCM to warrant consideration of a gene therapy approach to the disease. In the present study, the vision in BCM is examined, ...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2019
ISSN: 1552-5783
DOI: 10.1167/iovs.19-27079