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Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
Invest Ophthalmol Vis Sci. 2010 Aug; 51(8):3884-92.IO

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 variety of phenotypes, including BCM, cone dystrophy, and maculopathy. Males with X-linked cone-dominated diseases should be routinely analyzed for mutations in the L-M opsin gene array.

Authors+Show Affiliations

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20220053

Citation

Mizrahi-Meissonnier, Liliana, et al. "Variable Retinal Phenotypes Caused By Mutations in the X-linked Photopigment Gene Array." Investigative Ophthalmology & Visual Science, vol. 51, no. 8, 2010, pp. 3884-92.
Mizrahi-Meissonnier L, Merin S, Banin E, et al. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. Invest Ophthalmol Vis Sci. 2010;51(8):3884-92.
Mizrahi-Meissonnier, L., Merin, S., Banin, E., & Sharon, D. (2010). Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. Investigative Ophthalmology & Visual Science, 51(8), 3884-92. https://doi.org/10.1167/iovs.09-4592
Mizrahi-Meissonnier L, et al. Variable Retinal Phenotypes Caused By Mutations in the X-linked Photopigment Gene Array. Invest Ophthalmol Vis Sci. 2010;51(8):3884-92. PubMed PMID: 20220053.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. AU - Mizrahi-Meissonnier,Liliana, AU - Merin,Saul, AU - Banin,Eyal, AU - Sharon,Dror, Y1 - 2010/03/10/ PY - 2010/3/12/entrez PY - 2010/3/12/pubmed PY - 2010/8/21/medline SP - 3884 EP - 92 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 51 IS - 8 N2 - 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 variety of phenotypes, including BCM, cone dystrophy, and maculopathy. Males with X-linked cone-dominated diseases should be routinely analyzed for mutations in the L-M opsin gene array. SN - 1552-5783 UR - https://www.unboundmedicine.com/medline/citation/20220053/Variable_retinal_phenotypes_caused_by_mutations_in_the_X_linked_photopigment_gene_array_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.09-4592 DB - PRIME DP - Unbound Medicine ER -