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Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Invest Ophthalmol Vis Sci. 2005 Feb; 46(2):734-43.IO

Abstract

PURPOSE

To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome.

METHODS

Three siblings with USH2C and 14 patients with USH2A were studied. Visual function was measured by kinetic perimetry, static chromatic perimetry, and electroretinography (ERG). Central retinal microstructure was studied with optical coherence tomography (OCT).

RESULTS

The siblings with VLGR1 mutation showed abnormal photoreceptor-mediated function in all retinal regions, and there was greater rod than cone dysfunction. USH2A had a wider spectrum of disease expression and included patients with normal function in some retinal regions. When abnormalities were detected, there was more rod than cone dysfunction. Retinal microstructure in both USH2C and USH2A shared the abnormality of loss of outer nuclear layer thickness. Central retinal structure in both genotypes was complicated by cystic macular lesions. A coincidental finding in an USH2C patient was that oral intake of antihistamines was associated with temporary resolution of the macular cystic change.

CONCLUSIONS

USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. An orderly progression through disease stages was estimated from cross-sectional and limited longitudinal data. Intrafamilial and interfamilial variation in retinal severity in USH2A, however, suggests that genetic or nongenetic modifiers may be involved in the disease expression.

Authors+Show Affiliations

Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15671307

Citation

Schwartz, Sharon B., et al. "Disease Expression in Usher Syndrome Caused By VLGR1 Gene Mutation (USH2C) and Comparison With USH2A Phenotype." Investigative Ophthalmology & Visual Science, vol. 46, no. 2, 2005, pp. 734-43.
Schwartz SB, Aleman TS, Cideciyan AV, et al. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci. 2005;46(2):734-43.
Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Windsor, E. A., Sumaroka, A., Roman, A. J., Rane, T., Smilko, E. E., Bennett, J., Stone, E. M., Kimberling, W. J., Liu, X. Z., & Jacobson, S. G. (2005). Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative Ophthalmology & Visual Science, 46(2), 734-43.
Schwartz SB, et al. Disease Expression in Usher Syndrome Caused By VLGR1 Gene Mutation (USH2C) and Comparison With USH2A Phenotype. Invest Ophthalmol Vis Sci. 2005;46(2):734-43. PubMed PMID: 15671307.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. AU - Schwartz,Sharon B, AU - Aleman,Tomas S, AU - Cideciyan,Artur V, AU - Windsor,Elizabeth A M, AU - Sumaroka,Alexander, AU - Roman,Alejandro J, AU - Rane,Tej, AU - Smilko,Elaine E, AU - Bennett,Jean, AU - Stone,Edwin M, AU - Kimberling,William J, AU - Liu,Xue-Zhong, AU - Jacobson,Samuel G, PY - 2005/1/27/pubmed PY - 2005/3/12/medline PY - 2005/1/27/entrez SP - 734 EP - 43 JF - Investigative ophthalmology & visual science JO - Invest Ophthalmol Vis Sci VL - 46 IS - 2 N2 - PURPOSE: To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome. METHODS: Three siblings with USH2C and 14 patients with USH2A were studied. Visual function was measured by kinetic perimetry, static chromatic perimetry, and electroretinography (ERG). Central retinal microstructure was studied with optical coherence tomography (OCT). RESULTS: The siblings with VLGR1 mutation showed abnormal photoreceptor-mediated function in all retinal regions, and there was greater rod than cone dysfunction. USH2A had a wider spectrum of disease expression and included patients with normal function in some retinal regions. When abnormalities were detected, there was more rod than cone dysfunction. Retinal microstructure in both USH2C and USH2A shared the abnormality of loss of outer nuclear layer thickness. Central retinal structure in both genotypes was complicated by cystic macular lesions. A coincidental finding in an USH2C patient was that oral intake of antihistamines was associated with temporary resolution of the macular cystic change. CONCLUSIONS: USH2C and USH2A manifest photoreceptor disease with rod- and cone-mediated visual losses and thinning of the outer nuclear layer. An orderly progression through disease stages was estimated from cross-sectional and limited longitudinal data. Intrafamilial and interfamilial variation in retinal severity in USH2A, however, suggests that genetic or nongenetic modifiers may be involved in the disease expression. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/15671307/Disease_expression_in_Usher_syndrome_caused_by_VLGR1_gene_mutation__USH2C__and_comparison_with_USH2A_phenotype_ L2 - https://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.04-1136 DB - PRIME DP - Unbound Medicine ER -