Biomedical subjects

Susan J Leat

Publications and source records attributed to Susan J Leat.

6 recordsLinked to original sources

PubMed2026

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

Autosomal recessive HARS1-related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl-tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses. In-vitro studies have previously shown that histidine can rescue a humanized yeast model for pathogenic HARS alleles. Fourteen children homozygous for HARS Y454S were treated with supplemental oral histidine (50 mg/kg BID) and monitored with bloodwork and physical, visual, and audiometry assessments during a 3-year clinical trial, then followed for more than 4 years on histidine in the post-trial period. Patient fibroblasts were assessed for response to histidine. Hearing and vision remained stable, and growth improved significantly. Children remained healthy, with no severe deteriorations despite exposure to bacterial and viral infections, including COVID-19. Gains in growth were maintained in the post-trial period on varying levels of histidine supplementation. Daily oral histidine supplementation in children with autosomal recessive HARS1-related disorder can ameliorate or slow the progression of disease and is safe, inexpensive, and well tolerated. This study adds to the growing list of autosomal recessive ARSopathies (aminoacyl-tRNA synthetase disorders) that are amenable to amino acid supplementation.

Humans↗

PubMed2004

Clinical testing of contrast sensitivity in children: age-related norms and validity.

PURPOSE: The Hiding Heidi (HH) test and the LEA low-contrast symbols are two commercially available charts of contrast sensitivity (CS) for children. However, there are no published normal data and no indication of how CS measured by these charts relates to other measures of CS. In this study, normal age-related data for both tests are reported, and validity against the Pelli-Robson (PR) chart is measured. METHODS: Eighty-eight normally sighted children were divided into four age groups: 1 to <2.5 years, 2.5 to <4 years, 4 to <6 years, and 6 to <8 years. An adult group with normal vision and with low vision also took part. CS was measured with the HH test, the LEA symbols at 1 m and 28 cm, and the PR chart, as the child's ability permitted. Because there were obvious differences between the contrast levels of the PR chart and the nominal contrast for the children's charts, each contrast level for the children's tests was recalibrated. RESULTS: The HH test and the LEA symbols at 28 cm and 1 m all showed a floor effect; that is, most children of all ages correctly responded to the lowest contrast. The median CS for the LEA symbols at 28 cm and 1 m was 2.22 log CS, which was 1.65 when recalibrated. There was a significant difference of PR CS between the 6- to <8-year-olds and adults (p < 0.001). Of the children's charts, the LEA symbols at 28 cm, once recalibrated for contrast, had the best agreement with the PR chart. CONCLUSION: The LEA and HH charts cannot measure a true contrast threshold for children with normal vision because of the floor effect. The LEA symbols at 28 cm gave the most useful information, once recalibrated for contrast, and may be useful to predict performance of children with low vision, when CS is likely to be compromised.

Adult↗

PubMed2003

The UWCDot colour vision test and low vision.

PURPOSE: Previous studies have shown that colour vision defects are common in the low vision population even when properly designed tests are used. However, there are very few clinical tests available that are suitable for this group of patients. One of the more common is the Jumbo D-15 (JD15). Although this test uses caps more suitable for the reduced acuity, it requires the patient to have some knowledge of colour order and sufficient dexterity to manipulate the caps. We compared the JD15 with the University of Waterloo Colored Dot test (UWCDot), which has neither of these requirements, to determine whether the UWCDot test could be used as a substitute for the JD15. METHODS: The colour vision of 40 consecutive low vision patients was evaluated with both tests. Acuities ranged from 6/6 to 6/1600 with a median value of 6/30. RESULTS: All subjects could perform both tests. The kappa coefficient of agreement between tests was high at 0.85 when any major crossing was a failure on the JD15 and any mistake was a failure on the UWCDot. Classification of the type of defect was also reasonable when the defect was relatively severe. CONCLUSIONS: The UWCDot can be used as a substitute for the JD15 in the low vision clinic. Both tests identify individuals with moderate-to-severe deficiencies, but the UWCDot does not require any manual dexterity and it does not require knowledge of colour-order.

Adolescent↗

PubMed2002

The validity of the University of Waterloo Colored Dot Test for Color Vision Testing in adults and preschool children.

PURPOSE: Most color vision tests require a high level of cognitive ability and as such are problematic for preschool children and multiply challenged individuals. Our goal was to design a color vision test for these groups and evaluate the clinical utility for preschool children. METHODS: The University of Waterloo Colored Dot Test (UWCDot) for Color Vision Testing requires the subject to distinguish a colored disc from seven gray discs. The target disc was a Munsell color along the deutan, protan, or tritan confusion line with gray. The first phase estimated the sensitivity and specificity of the test for adults. Thirty-one adults with normal color vision and 21 adults with congenital red-green defects participated. In the second phase, the utility of the UWCDot test for screening preschool children was determined. Subjects were 281 males and 269 females aged 2.5 to 5 years with normal vision. Their color vision was also assessed with the Standard Pseudoisochromatic Plates, Part 1 (SPP1). RESULTS: The sensitivity and specificity of UWCDot for adults approached the values for the desaturated D-15 when subjective responses were scored. Monitoring fixational eye movements produced sensitivity and specificity values that were similar to the anomaloscope. After adjusting the scoring criterion for the preschool children by using the females as a control, 2.9% of the males were identified as red-green deficient, 1.8% were blue-yellow deficient, and 3.2% had an unclassified deficiency. By definition, 1% of the females failed the test. Counting fixational eye movements was not a useful scoring method in the preschool children. Comparisons with SPP1 indicated that the UWCDot uncovers approximately 35% of the individuals with definite red-green color vision defects. CONCLUSIONS: Our results indicate that the UWCDot is capable of detecting approximately 35% of the preschool children who have a congenital red-green color vision defect. These individuals are likely to have a more severe deficiency.

Adult↗

PubMed2001

Changes in fixation in the presence of prism monitored with a confocal scanning laser ophthalmoscope.

BACKGROUND: The main optical effect of an ophthalmic prism is to deviate uniformly the entire field of view seen through the prism, resulting in an equal eye movement, if fixation on the same object is to be maintained. Conversely, it has been suggested that, in the case of low vision due to central scotoma, the eye changes its eccentric viewing behaviour when a prism is introduced, that is, the eye remains stationary with a change of retinal image location. METHOD: A new method is described in which retinal image position was recorded with a confocal scanning laser ophthalmoscope in four experimental conditions. RESULTS: Results showed that the normally-sighted eye rotates rapidly to compensate for the introduction of a prism. CONCLUSION: Future studies are required involving subjects with central scotoma but it is likely that many subjects with low vision will also refixate behind a prism and that the prescribing and wearing of bilateral prism in cases of central vision loss will have limited effectiveness in the demonstration or training of eccentric viewing.

Journal Article↗

PubMedDate not supplied

The moving dynamic random dot stereosize test: validity and repeatability.

PURPOSE: We have developed a new test suitable for measuring stereopsis in young children and individuals with communication difficulties. It consists of a drifting, computer-generated red and green, dynamic random dot, disparate shape. The motion direction is indicated by the subject (subjective response) or by a naive observer judging the eye movements of the subject (objective response). Disparity is maintained at 616 sec arc and the dependent variable is the angular subtense of the target, which varies from 11 degrees to 11 ft. In this study, precision (ie, measuring repeatability and objective-subjective agreement) and validity were assessed. SUBJECTS AND METHODS: Sixteen subjects with normal vision participated in the repeatability study and 10 in the validity studies. A two-up/one-down, 2 alternative forced choice staircase procedure was used to measure objective and subjective threshold on two occasions with a 1-week separation. Sensitivity for detecting anisometropia was estimated with simulated anisometropia (0 to 3 D) and by comparison with the Randot test. Sensitivity for detecting amblyopia or strabismus was tested in 10 subjects. RESULTS: Subjective repeatability was 0.31 log units (2 levels of the test) and objective repeatability was 0.49 log units (3.2 levels of the test). The test was able to detect 2.0 D of simulated anisometropia in 8 of 10 cases (above the 95% confidence interval). None of the amblyopic subjects demonstrated stereopsis. CONCLUSION: This test of dynamic global stereopsis has potential as a clinical or screening tool for anisometropia, amblyopia, and strabismus.

Adult↗