منابع مشابه
Blue Cone Monochromacy Causes Deterioration in Visual Acuity and Color Vision in a Boy
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...
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 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 کاملHuman 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 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: The Journal of Physiology
سال: 1971
ISSN: 0022-3751
DOI: 10.1113/jphysiol.1971.sp009318