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Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Invest Ophthalmol Vis Sci. 2008 Feb; 49(2):751-7.IO

Abstract

PURPOSE

Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color vision defects, and specific alterations of ERG responses that feature elevated scotopic b-wave amplitudes at high luminance intensities. Mutations in PDE6H and in KCNV2 have been described in CDSRR. A combined clinical and genetic study was conducted in a cohort of patients with CDSRR, to substantiate these prior

METHODS

Seventeen patients from 13 families underwent a detailed ophthalmic examination including color vision testing, Goldmann visual fields, fundus photography, Ganzfeld and multifocal ERGs, and optical coherence tomography. The coding sequences and flanking intron/UTR sequences of PDE6C and KCNV2 were screened for mutations by means of DHPLC and direct DNA sequencing of PCR-amplified genomic DNA. results. Whereas no mutations were detected in the PDE6H gene, mutations in KCNV2 were identified in all patients, in either the homozygous or compound heterozygous state. Ten of the 11 identified mutations were novel, including three missense and six truncating mutations and one gross deletion. The mutations concordantly segregate in all available families according a recessive mode of inheritance. The CDSRR phenotype was associated with reduced visual acuity of variable degree and color vision defects. Macular defects ranging from mild pigmentary changes to distinct foveal atrophy were present in nine patients. Progression of the disease was observed in only three of seven patients with follow-up data.

CONCLUSIONS

The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2.

Authors+Show Affiliations

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany. wissinger@uni-tuebingen.deNo 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)

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

Language

eng

PubMed ID

18235024

Citation

Wissinger, Bernd, et al. "Cone Dystrophy With Supernormal Rod Response Is Strictly Associated With Mutations in KCNV2." Investigative Ophthalmology & Visual Science, vol. 49, no. 2, 2008, pp. 751-7.
Wissinger B, Dangel S, Jägle H, et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci. 2008;49(2):751-7.
Wissinger, B., Dangel, S., Jägle, H., Hansen, L., Baumann, B., Rudolph, G., Wolf, C., Bonin, M., Koeppen, K., Ladewig, T., Kohl, S., Zrenner, E., & Rosenberg, T. (2008). Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Investigative Ophthalmology & Visual Science, 49(2), 751-7. https://doi.org/10.1167/iovs.07-0471
Wissinger B, et al. Cone Dystrophy With Supernormal Rod Response Is Strictly Associated With Mutations in KCNV2. Invest Ophthalmol Vis Sci. 2008;49(2):751-7. PubMed PMID: 18235024.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. AU - Wissinger,Bernd, AU - Dangel,Susann, AU - Jägle,Herbert, AU - Hansen,Lars, AU - Baumann,Britta, AU - Rudolph,Günther, AU - Wolf,Christiane, AU - Bonin,Michael, AU - Koeppen,Katja, AU - Ladewig,Thomas, AU - Kohl,Susanne, AU - Zrenner,Eberhart, AU - Rosenberg,Thomas, PY - 2008/2/1/pubmed PY - 2008/3/14/medline PY - 2008/2/1/entrez SP - 751 EP - 7 JF - Investigative ophthalmology & visual science JO - Invest. Ophthalmol. Vis. Sci. VL - 49 IS - 2 N2 - PURPOSE: Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color vision defects, and specific alterations of ERG responses that feature elevated scotopic b-wave amplitudes at high luminance intensities. Mutations in PDE6H and in KCNV2 have been described in CDSRR. A combined clinical and genetic study was conducted in a cohort of patients with CDSRR, to substantiate these prior METHODS: Seventeen patients from 13 families underwent a detailed ophthalmic examination including color vision testing, Goldmann visual fields, fundus photography, Ganzfeld and multifocal ERGs, and optical coherence tomography. The coding sequences and flanking intron/UTR sequences of PDE6C and KCNV2 were screened for mutations by means of DHPLC and direct DNA sequencing of PCR-amplified genomic DNA. results. Whereas no mutations were detected in the PDE6H gene, mutations in KCNV2 were identified in all patients, in either the homozygous or compound heterozygous state. Ten of the 11 identified mutations were novel, including three missense and six truncating mutations and one gross deletion. The mutations concordantly segregate in all available families according a recessive mode of inheritance. The CDSRR phenotype was associated with reduced visual acuity of variable degree and color vision defects. Macular defects ranging from mild pigmentary changes to distinct foveal atrophy were present in nine patients. Progression of the disease was observed in only three of seven patients with follow-up data. CONCLUSIONS: The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2. SN - 0146-0404 UR - https://www.unboundmedicine.com/medline/citation/18235024/Cone_dystrophy_with_supernormal_rod_response_is_strictly_associated_with_mutations_in_KCNV2_ L2 - http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.07-0471 DB - PRIME DP - Unbound Medicine ER -