Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations
نویسندگان
چکیده
منابع مشابه
Blue 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...
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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...
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Purpose: To present the genetic cause of progressive deterioration in visual acuity and color vision in a child with high myopia and strabismus. Here we describe a novel x-linked mutation in the opsin 1 medium-wave-sensitive (OPN1MW) gene in a child, leading to cone rod dystrophy. Setting/Venue: Trio whole-exome sequencing (WES). Methods: We reviewed the clinical data and eye exams including fa...
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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: 2018
ISSN: 1552-5783
DOI: 10.1167/iovs.18-25280