Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a

Ronald J.E. Pennings, Patrick L.M. Huygen, Dana J. Orten, Mariette Wagenaar, Annelies van Aarem, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, August F. Deutman

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    33 Scopus citations


    Purpose: To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a). Methods: We carried out a retrospective study of 19 USH1b patients and 40 USH2a patients. Cross-sectional regression analyses of the functional acuity score (FAS), functional field score (FFS) and functional vision score (FVS) related to age were performed. Statistical tests relating to regression lines and Student's t-test were used to compare between (sub)groups of patients. Parts of the available individual longitudinal data were used to obtain individual estimates of progressive deterioration and compare these to those obtained with cross-sectional analysis. Results were compared between subgroups of USH2a patients pertaining to combinations of different types of mutations. Results: Cross-sectional analyses revealed significant deterioration of the FAS (0.7% per year), FFS (1.0% per year) and FVS (1.5% per year) with advancing age in both patient groups, without a significant difference between the USH1b and USH2a patients. Individual estimates of the deterioration rates were substantially and significantly higher than the cross-sectional estimates in some USH2a cases, including values of about 5% per year (or even higher) for the FAS (age 35-50 years), 3-4% per year for the FFS and 4-5% per year for the FVS (age > 20 years). There was no difference in functional vision score behaviour detected between subgroups of patients pertaining to different biallelic combinations of specific types of mutations. Conclusions: The FAS, FFS and FVS deteriorated significantly by 0.7-1.5% per year according to cross-sectional linear regression analysis in both USH1b and USH2a patients. Higher deterioration rates (3-5% per year) in any of these scores were attained, according to longitudinal data collected from individual USH2a patients. Score behaviour was similar across the patient groups and across different biallelic combinations of various types of mutations. However, more elaborate studies, preferably covering longitudinal data, are needed to obtain conclusive evidence.

    Original languageEnglish (US)
    Pages (from-to)131-139
    Number of pages9
    JournalActa Ophthalmologica Scandinavica
    Issue number2
    StatePublished - Apr 2004


    • Clinical study
    • Phenotype-genotype correlation
    • Retinitis pigmentosa
    • USH1b
    • USH2a
    • Usher syndrome
    • Visual field deterioration

    ASJC Scopus subject areas

    • Ophthalmology


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