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S C Carter

Publications and source records attributed to S C Carter.

3 recordsLinked to original sources

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

Centromere

Evaluation of two infrared autorefractors in pseudophakia.

We investigated the viability of using an objective infrared autorefractor to identify high corneal astigmatism (> 3.00 D) in a pseudophakic population. The eyes of 91 patients, who had recently undergone cataract extraction and intraocular lens implanation, were refracted manually and using two infrared autorefractors, a Canon RK-1 and a Nikon NR-2000. Autorefractor measurements were repeated to provide estimates of reliability for each instrument. LogMAR visual acuities were also recorded with both the manual and autorefractor corrections. Approximately 75% of repeat autorefractor measurements were within 0.50 D of the initial readings, and about 75% of measurements were within 1.00 D of the manual refractions. Visual acuities with manual corrections were, on average, one line better than with autorefractor corrections. By validating the autorefractors against manual refraction, the efficiency of the autorefractors for detecting astigmatism > 3.00 D was calculated. Setting the cut-off criterion to ensure high sensitivity (95%), so that almost all patients with > 3.00 D were detected, resulted in both instruments having a poor specificity of about 40%.

Adult