PubMed · 14894604
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D DYER, E O BIERMAN. 1952. Cortical potential changes in suppression amblyopia.. https://doi.org/10.1016/0002-9394(52)91586-9
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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.
The purpose of this study was to investigate the extent and specificity of crowding in the normal fovea and periphery, and the central field of amblyopes, using "C"-like patterns. In the first experiment we measured the extent of crowding for C-patterns comprised of Gaussian patches, over a range of target sizes using a four-alternative forced-choice (up, down, left, right) method. We found that the extent of foveal crowding is proportional to target size. In contrast, in normal periphery and in the central field of amblyopes, crowding extends over large spatial distances and is not size dependent. Crowding for our stimuli occurred with both same-polarity and opposite polarity patches. To test whether the extended crowding in amblyopia resulted from a shift in the spatial scale of analysis, we measured crowding with band-limited C-patterns (comprised of Gabor patches) in a gap localization task (2-AFC). With band-limited stimuli, and a task that does not involve judging the orientation of the gap, the amblyopic eyes showed crowding over a longer distance than that of normal observers. We also tested the orientation specificity of crowding by varying the orientation of the flanks. In normal fovea, crowding is orientation specific: in amblyopia it is not. While crowding in normal fovea can be explained by simple pattern masking, crowding seen in normal periphery and amblyopes cannot. Instead we suggest that crowding in amblyopic and peripheral vision is a result of extended pooling at a stage following the stage of feature detection.
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