PubMed · 8562534
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J Elston. 1995. Preschool visual screening.. https://doi.org/10.1136/bjo.79.12.1063
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OBJECTIVE: To identify genetic variants associated with amblyopia in African (AFR) and Admixed American (AMR) ancestry groups, expanding on previous studies conducted in European ancestry. DESIGN: Retrospective ancestry-stratified genome-wide association study (GWAS) and gene-level rare variant association study (RVAS). PARTICIPANTS: Participants in the All of Us Research Program from AFR and AMR ancestry groups who had whole-genome sequencing available. Cases and controls were distinguished based on the presence of International Classification of Diseases 9/10/SNOMED diagnosis codes for amblyopia in electronic health records. This yielded ancestry-stratified subsets of 269 cases and 71 585 controls of AMR ancestry and 366 cases and 79 460 controls of AFR ancestry. METHODS: Stratified logistic regression models were adjusted for age, biological sex, and the top 10 principal components of genomic ancestry. GWAS was limited to common variants (minor allele frequency ≥1%), and RVAS was limited to rare variants with coding sequence-altering effects (minor allele frequency >1%, exonic only, excluding synonymous variants) aggregated at the gene level using the SKAT algorithm. Downstream analyses of the significant variants were performed using KEGG and GO pathway analysis and STRING database queries for protein-protein interactions and gene-gene interactions. MAIN OUTCOME MEASURES: Single-nucleotide polymorphisms were determined to have genome-wide significance if P < 5e-8 in the GWAS, and genes were determined to have significant association with amblyopia in the RVAS if P < 8.0 × 10-4. RESULTS: In the AMR GWAS, 245 unique single-nucleotide polymorphisms mapping to 97 distinct loci were identified, notably within neurodevelopmental and axonal guidance genes, including ROBO1, SEMA4B, PTPRD, NRXN1, and CAMK2D. The AFR GWAS identified 11 significant variants corresponding to 6 loci mapping primarily to long noncoding RNAs and pseudogenes. The AMR RVAS identified 15 genes, including axonal transport genes (KIF1B and KIF7) and growth factor signaling genes (EGF, ERBIN, and AKAP17A). The AFR RVAS identified a single gene, DLG2, which encodes the postsynaptic protein PSD-93, which promotes the closure of the sensitive period of neuroplasticity for vision in early childhood. CONCLUSIONS: Genetic risk architectures for amblyopia differ across ancestries but fundamentally converge on neurodevelopmental signaling, cortical synapse assembly, and sensitive period plasticity rather than ocular structural dynamics. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.
PURPOSE: The purpose of this study was to evaluate the difference between full chart, single line, and single optotypes visual acuity (VA) test results in healthy and amblyopic children. METHODS: Thirty-five children with amblyopia (20 with strabismus and 15 with anisometropia) and 40 ophthalmologically normal age-matched children were examined. The mean age of the patients in the study and control groups did not differ significantly (P= .9). A commercial projector that projected tumbling-E randomly placed optotypes was used. The VA of the amblyopic eye of the patients in the study group and the right eye of the patients in the control group was examined first using a full chart of optotypes, then using a single line of optotypes, and finally with individual symbols. The procedure was repeated with the other eye. RESULTS: LogMAR VA improved when the full chart was substituted with a single line, and improved by a similar increment further with single optotypes, in both the study and control groups. VA improved significantly more in eyes with amblyopia than in control subjects. Results were not influenced by age. CONCLUSION: VA testing using a single line gives better, sometimes misleading results, than tests with a full chart because it reduces but does not eliminate the crowding effect. When using a device that can employ more than 1 mode, the exacttest mode should be specified and maintained throughout the follow-up.
PURPOSE: To assess the prevalence and level of binocular function in children with unilateral congenital or very early infantile cataract. METHODS: We retrospectively reviewed the charts of all patients with unilateral congenital or very early infantile cataract who underwent operation before 4 months of age, at the W. K. Kellogg Eye Center/University of Michigan Hospitals, from 1985 to 1995. Amblyopia was treated with a reduced patching schedule consisting of 1 hour per day per month of age for the first 6 months of life, in an attempt to improve binocular function by allowing more hours of binocular interaction during the presumed critical period for development of binocular cortical pathways. RESULTS: Thirteen patients met the inclusion criteria. Seven patients had persistent hyperplastic primary vitreous (PHPV) cataract and 6 had non-PHPV cataract. Overall, visual acuity of 20/80 or better developed in 69% of patients; 100% of eyes with non-PHPV cataract achieved visual acuity of 20/60 or better. Stereopsis of 400 arc seconds or better was detectable in 62% of patients, including 3 with PHPV cataract and 3 who required strabismus surgery in the first year of life. Three children had better than 150 arc seconds of stereopsis. The incidence of large-angle strabismus was 54%. CONCLUSIONS: Binocular cooperation, including gross and fine stereopsis, can develop in children with unilateral aphakia as a result of early removal of infantile cataracts. A less-strenuous patching schedule than has been historically advocated may foster this process, while restoring and maintaining good central visual acuity in patients with excellent compliance with contact lens and occlusion regimens.