| Long-term follow up of the human phenotype in 3 siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. | |
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MedLine Citation:
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PMID: 21911584 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Purpose:To provide an up to 14-year overview of the early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2-gene.Methods:Two brothers and their sister .were followed-up clinically from ages 5 years, 4 years, and 2 months on, respectively including complete ophthalmological examinations. Goldmann visual fields, 2-color-threshold (2CT) perimetry, color vision testing, optical coherence tomography (OCT), fundus autofluorescence (FAF), and Ganzfeld electroretinograms (ERG) were performed according to age-related capabilities. Genetic analyses included whole genome linkage analysis, homozygosity mapping, and candidate gene sequencing.Results:All three siblings were homozygous for the p.G461R mutation. At 5 months, the younger brother had no nystagmus and Teller-acuity of 3.2 cycles/deg. At older age, all three presented nystagmus, increased light sensitivity, reduced color discrimination, relative central scotomas. Visual acuities ranged from 20/200 to 20/70. The macula developed minor irregularities of the RPE, thinning in OCT, and a ring of increased FAF. Scotopic (rod) sensitivity was reduced by 2 log and photopic sensitivity by 1 log in 2CT perimetry. ERG responses were markedly delayed. Photopic amplitudes were severely reduced. Scotopic b-waves rose steeply with flash intensity, but for the standard flash "supernormal" amplitudes were only reached in the girl.Conclusions:FAF was similar to that in cone-rod dystrophy. Although cone dysfunction was accompanied by rod dysfunction, and scotopic ERGs in Patient 2 deteriorated, no patient demonstrated any unequivocal sign of rod degeneration. Grossly delayed b-waves with a steep response-versus-intensity relationship rather than "supernormal" amplitudes should remind clinicians of this specific condition. |
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Authors:
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Christoph Friedburg; Bernd Wissinger; Maria Schambeck; Michael Bonin; Susanne Kohl; Birgit Lorenz |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-9-12 |
Journal Detail:
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Title: Investigative ophthalmology & visual science Volume: - ISSN: 1552-5783 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-9-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7703701 Medline TA: Invest Ophthalmol Vis Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Ophthalmology, Justus-Liebig-University, Universitaetsklinikum Giessen und Marburg GmbH, Giessen Campus, Giessen, Germany; |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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