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Cited by 39

The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.

Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

Mizrahi-Meissonnier, Liliana, Merin, Saul, Banin, Eyal, Sharon, Dror·2010·Investigative Opthalmology & Visual Science
DOI 10.1167/iovs.09-4592
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Abstract

Purpose To examine the involvement of the long (L) and middle (M) wavelength-sensitive cone opsin genes in cone-dominated phenotypes. Methods Clinical and molecular analyses included family history, color vision testing, full-field electroretinography (ERG), linkage analysis, and mutation detection. Results Eighteen families were recruited that had X-linked retinal disease characterized by cone impairment in which affected males usually had nystagmus, reduced visual acuity, normal to subnormal rod ERG, and reduced or extinguished cone ERG responses. A search for mutations in the L-M pigment gene array revealed disease-causing mutations in six families. In two of them, novel mutations were identified: a large deletion affecting both opsin genes and a single L opsin gene harboring a likely pathogenic mutation, p.Val120Met. A third family carried a single hybrid gene with the p.Cys203Arg mutation. Patients from the three remaining families carried a single opsin gene harboring two similar rare haplotypes. Although the phenotype of members in one of the families was compatible with blue cone monochromacy (BCM), patients from the two other families, who shared an identical haplotype, had only reduced or even normal full-field cone ERGs, but maculopathy was evident. Conclusions Novel and known mutations affecting the L-M opsin gene array were identified in families with X-linked cone-dominated phenotypes. The results show that different mutations in this gene array can cause a vari…

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Metadata

Authors
Mizrahi-Meissonnier, L., Merin, S., Banin, E., & Sharon, D.
Affiliations
From the Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Venue
Investigative Opthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Published
2010-08-01
Volume
51
Issue
8
Pages
3884
ISSN
1552-5783
DOI
10.1167/iovs.09-4592
Cited by
39
References
32
Language
en

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