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E.T. Tsilou, J. Schultz, M. Meltzer, R.C. Caruso, A. Griffith, A. Madeo, C. Brewer, C. Zalewski, G. Reed, T. Friedman; Genotype–Phenotype Correlations of R245X of PCDH15 Encoding Protocadherin–15 . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5327.
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© ARVO (1962-2015); The Authors (2016-present)
The Usher syndromes are a group of clinically variable and genetically heterogeneous autosomal recessive disorders that feature a combination of variable degrees of hearing impairment and retinitis pigmentosa. The purpose of this study was to define the clinical characteristics of Usher type 1F (USH1F) patients that carry the R245X mutation of PCDH15, R245X is the most common cause of Usher type 1 (USH1) in the Ashkenazi Jewish population.
Three patients were found to be homozygous for R245X. All three patients underwent a complete ophthalmologic evaluation with Goldmann kinetic perimetry and electroretinography. Two of the patients also underwent complete audiologic and vestibular evaluation. In the third patient audiologic and vestibular testing was not performed because of bilateral cochlear implants.
Mean age of the patients at their last examination was 33 years (range 19–59 years). All three patients were Ashkenazi Jewish and fit the clinical criteria of USH1. Mean age of perceived night blindness was 11.5 years and mean age of retinitis pigmentosa diagnosis was 13 years. Visual acuity at their last examination ranged from 20/25 Snellen equivalent to no light perception. Visual acuity was severely compromised in the older patient and significantly decreased in the one of the younger patients. All three patients had posterior subcapsular cataract, very constricted visual fields and severely reduced to extinguished scotopic and photopic ERG responses.
This subset of Usher type I patients appear to be severely affected from early in life. Further longitudinal studies are required to help define the natural history and rate of progression in these patients.
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