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Phenotypes in defined genotypes including siblings with Usher syndrome
Department of Ophthalmology, Skåne University Hospital, Lund, Sweden.
Department of Ophthalmology, Skåne University Hospital, Lund, Sweden.
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden. Department of Audiology, Swedish Institute of Disability Research, Örebro University Hospital, Örebro, Sweden.ORCID iD: 0000-0001-6557-6359
Department of Ophthalmology and Visual Science, Iowa University Carver School of Medicine, Iowa City IA, United States; Usher Syndrome Center, BoysTown National Research Hospital, Omaha NE, United States.
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2011 (English)In: Ophthalmic Genetics, ISSN 1381-6810, E-ISSN 1744-5094, Vol. 32, no 2, p. 65-74Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: To characterize visual function in defined genotypes including siblings with Usher syndrome.

METHODS: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL).

RESULTS: Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the patients with Usher type 1 mf ERG demonstrated a specific pattern, with a sharp distinction between the area with reduced function and the central area with remaining macular function and normal peak time. OCT demonstrated loss of foveal depression with distortion of the foveal architecture in the macula in all patients. The foveal thickness ranged from 159 to 384 µm and was not correlated to retinal function. Three siblings shared the same mutation for Usher 2C but in contrast to previous reports regarding this genotype, 1 of them diverged in phenotype with substantially normal visual fields, almost normal OCT and mf ERG findings, and only moderately reduced rod and cone function according to ERG.

CONCLUSIONS: Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome.

Place, publisher, year, edition, pages
Informa Healthcare, 2011. Vol. 32, no 2, p. 65-74
National Category
Medical Genetics Ophthalmology
Identifiers
URN: urn:nbn:se:oru:diva-26511DOI: 10.3109/13816810.2010.536064ISI: 000290488500001PubMedID: 21174530Scopus ID: 2-s2.0-79955809485OAI: oai:DiVA.org:oru-26511DiVA, id: diva2:571930
Note

Funding Agencies:

Söderbergs Forskningsfond  

Swedish Medical Research Council  2007-3385 

Foundation Fighting Blindness, Owings Mills, Maryland, USA 

Available from: 2012-11-26 Created: 2012-11-26 Last updated: 2018-09-11Bibliographically approved

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Möller, Claes

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