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PubMed · 8545799

Amblyopia.

Abstract

Over the past thirty years, much has been learned about the physiological basis for amblyopia. For many years amblyopia was considered to be a retinal disorder; it has now been well established through animal studies that amblyopia represents functional and morphological effects of visual deprivation on the visual cortex and the lateral geniculate nucleus. With this knowledge has come the recognition of a "sensitive period" of development of the visual system, during which time visual deprivation causes amblyopia. The best approach to managing amblyopia is to detect amblyogenic factors before the age of two years and prevent it through eliminating the causes of visual deprivation. When amblyopia exists, it can be cured if adequately treated in children less than 6-7 years of age. Even in older patients, visual improvement can be achieved with therapy. Current research is aimed at developing substances and delivery modes that will allow the sensitive period of visual development to be manipulated, increasing the period during which it can develop and enhancing preventative and therapeutic measures. In this review selected literature contributing to current understanding of causes, prevention and treatment of amblyopia is discussed. Although many new treatment modalities have been tried, occlusion still seems to be the most successful therapy.

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BibTeXRIS

E Campos. Amblyopia.. https://doi.org/10.1016/s0039-6257(95)80044-1

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Genome-Wide and Rare Variant Association Studies of Amblyopia in Admixed American and African Ancestry Groups.

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 &#x2265;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 &#xd7; 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.

Amblyopia